Where am I? -> ABOUT US -> Publications -> Publications
Direct link to this page: http://www.eurocat-network.eu/ABOUTUS/Publications/Publications

Publications

 

Filter Publications
Publication Years: From    to  
Publication Type:


Subjects:
























Authors:








































































































































































































































































































































































Member Registry:
Single Registry / Collaborative:
Journal:
Title Contains:
Order by:
   then by:   


Publications in bold match all of your criteria Showing 854 of 854 publications
Collaborative Publications
Dolk H, Wang, H, Loane M, Morris J, Addor M-C, Garne E, Arriola L, Bakker M, Barisic I, Doray B, Gatt M, Kallen K, Khoshnood B, Klungsoyr K, Lahesmaa-Korpinen AM, Latos- Bielenska A, Mejnartowicz JP, Nelen V, Neville A, O'Mahony M, Pierini A, Rissmann A, Tucker D, Wellesley D and de Jong-van den Berg L (2016). Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies.. Neurology. 86: (18). 1716-25. [NEUROLOGY2015673905.pdf]
Bergman JEH, Loane M, Vrijheid M, Pierini A, Nijman RJM, Addor M-C, Barisic I, Beres J, Braz P, Budd J, Delany V, Gatt M, Khoshnood B, Klungsoyr K, Martos C, Mullaney C, Nelen V, Neville A, O'Mahony M, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rissmann A, Rounding C, Tucker D, Wellesley D, Zymak-Zakutnya, N, Bakker M and de Walle H (2015). Epidemiology of hypospadias in Europe: a registry-based study. World Journal of Urology. [Full Text]
Dolk H (2015). The effect of H1N1 pandemic influenza on congenital anomaly prevalence in Europe: an ecological time series study. Epidemiology.
Dolk H, Loane M, Teljeur C, Densem J, Greenlees R, McCullough N, Morris J, Nelen V, Bianchi F and Kelly A (2015). Detection and investigation of temporal clusters of congenital anomaly in Europe: seven years of experience of the EUROCAT surveillance system. European Journal of Epidemiology. [Full Text]
EUROCAT (2015). EUROCAT Statistical Monitoring Report – 2012. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2015). Geographic Inequalities in Public Health Indicators Related to Congenital Anomalies. EUROCAT Central Registry, University of Ulster. [Full text]
Luteijn M, Addor M-C, Arriola L, Bianchi F, Garne E, Khoshnood B, Nelen V, Neville A, Queisser-Luft A, Rankin J, Rounding C, Verellen-Dumoulin C, de Walle H, Wellesley D, Yevtushok L, de Jong-van den Berg L, Morris J, Dolk H and Wreyford B (2015). The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.. Epidemiology. 26: (6). 853-861.
Taruscio D, Mantovani A, Carbone P, Barisic I, Bianchi F, Garne E, Nelen V, Neville A, Wellesley D and Dolk H (2015). Primary Prevention of Congenital Anomalies: Recommendable, Feasible and Achievable. Public Health Genomics. [Abstract]
Teljeur C, Kelly A, Loane M, Densem J and Dolk H (2015). Using scan statistics for congenital anomalies surveillance - the EUROCAT methodology. European Journal of Epidemiology. [Full text]
Wemakor, A, Casson K, Garne E, Bakker M, Addor M-C, Arriola L, Gatt M, Khoshnood B, Klungsoyr K, Nelen V, O'Mahony M, Pierini A, Rissmann A, Tucker D, Boyle B, de Jong-van den Berg L and Dolk H (2015). Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: A European register-based study. European Journal of Epidemiology. [Full text]
Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor M-C, Arriola L, Bergman JEH, Braz P, Budd J, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell R, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C and Dolk H (2014). Holt Oram syndrome: a registry-based study in Europe. Orphanet Journal of Rare Diseases. 9: 156-165. [Full Text]
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor M-C, Bergman JEH, Braz P, Draper E, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A and Verellen-Dumoulin C (2014). Meckel-Gruber syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. European Journal of Human Genetics. epub: [Abstract]
Barisic I, Odak, L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor M-C, Arriola L, Bergman JEH, Bianca S, Doray B, Khoshnood B, Klungsoyr K, McDonnell R, Pierini A, Rankin J, Rissmann A, Rounding C, Queisser-Luft A, Scarano G and Tucker D (2014). Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. European Journal of Human Genetics. [Abstract]
Best KE, Addor M-C, Arriola L, Balku E, Barisic I, Bianchi F, Calzolari E, Curran R, Doray B, Draper E, Garne E, Gatt M, Haeusler M, van Kammen-Bergman, Khoshnood B, Klungsoyr K, Martos C, Materna-Kiryluk A, Matias Dias C, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wellesley D, Zymak-Zakutnya, N and Rankin J (2014). Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Research Part A Clinical and Molecular Teratology. [Full Text]
Bianchi F, Bianca S, Barone C and Pierini A (2014). Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy). Epidemiologia e Prevenzione. 38: (3-4). 219-226. [Abstract]
Boyle B, Morris J, McConkey R, Garne E, Loane M, Addor M-C, Gatt M, Haeusler M, Latos- Bielenska A, Lelong N, McDonnell R, Mullaney C, O'Mahony M and Dolk H (2014). Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. British Journal of Obstetrics and Gynaecology. [Full Text]
Calzolari E, Barisic I, Loane M, Morris J, Wellesley D, Dolk H, Addor M-C, Arriola L, Bianchi F, Neville A, Budd J, Klungsoyr K, Khoshnood B, McDonnell R, Nelen V, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, de Walle H and Garne E (2014). Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study. Birth Defects Research (Part A). 100: 270-276. [Full Text]
Charlton R, Neville A, Jordan S, Pierini A, Damase-Michel C, Klungsoyr K, Nybo Andersen A-M, Vinkel Hansen A, Gini R, Bos, HJ, Puccini A, Hurault-Delarue C, Brooks C, de Jong-van den Berg L and de Vries C (2014). Healthcare databases in Europe for studying medicine use and safety during pregnancy. Pharmacoepidemiology and Drug Safety. [Full Text ]
Dolk H and Wellesley D (2014). Antenatal screening for Down Syndrome and other chromosomal abnormalities: increasingly complex issues. Archives of Disease in Childhood - Fetal and Neonatal Edition. 99: (1). F2-F3. [Full Text]
EUROCAT (2014). EUROCAT Special Report: Prevalence of Neural Tube Defects in Younger Mothers in Europe 2000-2008: Analysis of the EUROCAT Database. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Special Report: An Archive of the Cluster Advisory Service Content of the EUROCAT Website. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Newsletter September 2014. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Special Report: The Prevalence of Tetraology of Fallot and Ebstein's Anomaly in Europe. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Joint Action Evaluation Report. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Special Report: Sources of Information of Medication Use in Pregnancy. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Operating Grant Promotional Leaflet. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Newsletter December 2014. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). Future Development of EUROCAT. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2014). EUROCAT Annual Surveillance Report. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2014). EUROCAT Joint Action Final Activity Report January 2011 to December 2013. EUROCAT Central Registry, University of Ulster. [Full text]
Garne E and Morris J (2014). Analysis of the Born in Bradford birth cohort. The Lancet. 383: 122-123. [Full Text]
Garne E, Morris J, Loane M, Luteijn M, Barisic I, Wellesley D, Calzolari E and Tucker D (2014). EUROCAT Report: Surveillance of Multiple Congenital Anomalies. A report created within WP5 of the EUROCAT Joint Action. [Full text]
Lagan B, Dolk H, White B, Uges D and Sinclair M (2014). Assessing the availability of the teratogenic drug isotretinoin outside the pregnancy prevention programme: a survey of e-pharmacies. Pharmacoepidemiology and Drug Safety. 23: 411-418. [Full Text]
Luteijn M, Dolk H, Addor M-C, Arriola L, Barisic I, Bianchi F, Calzolari E, Draper E, Garne E, Gatt M, Haeusler M, Khoshnood B, McDonnell R, Nelen V, O'Mahony M, Mullaney C, Queisser-Luft A, Rankin J, Tucker D, Verellen-Dumoulin C, de Walle H and Yevtushok L (2014). Seasonality of Congenital Anomalies in Europe. Birth Defects Research (Part A). 100: (260). 269 [Full text]
McDonnell R, Delany V, O'Mahony M, Mullaney C, Lee B and Turner MJ (2014). Neural tube defects in the Republic of Ireland in 2009-2011. Journal of Public Health. March: 1-7. [Full text]
McGivern M, Best KE, Rankin J, Wellesley D, Greenlees R, Addor M-C, Arriola L, de Walle H, Barisic I, Beres J, Bianchi F, Calzolari E, Doray B, Draper E, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos- Bielenska A, O'Mahony M, Braz P, McDonnell R, Mullaney C, Nelen V, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wertelecki W and Martos C (2014). Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Archives of Disease in Childhood - Fetal and Neonatal Edition. epub: F1-F8. [Full Text]
Morris J, Garne E, Wellesley D, Addor M-C, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias C M, Gatt M, Klungsoyr K, Khoshnood B, Latos- Bielenska A, Mullaney C, Nelen V, Neville A, O'Mahony M, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Rounding C, Sipek A, Tucker D, de Walle H, Yevtushok L, Loane M, Dolk H and Stoianova S (2014). Major Congenital Anomalies in Babies Born with Down Syndrome: A EUROCAT Population-Based Registry Study. American Journal of Medical Genetics Part A. [Full text]
Taruscio D, Arriola L, Baldi F, Barisic I, Bermejo E, Bianchi F, Calzolari E, Carbone P, Curran R, Garne E, Gatt M, Latos- Bielenska A, Khoshnood B, Irgens L, Mantovani A, Martinez-Frias M-L, Neville A, Rissmann A, Ruggeri S, Wellesley D and Dolk H (2014). European Recommendations for Primary Prevention of Congenital Anomalies: A joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Diseases Plans. Public Health Genomics. 17: 115-123. [Abstract]
Winding L, Loane M, Wellesley D, Addor M-C, Arriola L, Bakker M, Bianchi F, Calzolari E, Gatt M, Haeusler M, Lelong N, Mullaney C, Scarano G, Tucker D, Wiesel A and Garne E (2014). Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe. Prenatal Diagnosis. 34: 1-6. [Full Text]
Barisic I, Odak, L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor M-C, Arriola L, Bergman JEH, Bianca S, Boyd P, Draper E, Gatt M, Haeusler M, Khoshnood B, Latos- Bielenska A, McDonnell R, Pierini A, Rankin J, Rissmann A, Queisser-Luft A, Verellen-Dumoulin C, Stone D and Tenconi R (2013). Fraser syndrome: epidemiological study in a European population. American Journal of Medical Genetics Part A. 161A: 1012-1018. [Abstract]
Bhat S, Gavin A and Dolk H (2013). 5. Screening for diseases. In "Epidemiology and Disease Prevention: A Global Approach" (2nd Ed). Oxford Unviersity Press. 48-65.
Boyle B, McConkey R, Garne E, Loane M, Addor M-C, Bakker M, Boyd P, Gatt M, Greenlees R, Haeusler M, Klungsoyr K, Latos- Bielenska A, Lelong N, McDonnell R, Metneki J, Mullaney C, Nelen V, O'Mahony M, Pierini A, Rankin J, Rissmann A, Tucker D, Wellesley D and Dolk H (2013). Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007. British Journal of Gynaecology. 120: 707-716. [Full Text]
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor M-C and et al (2013). Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability . Clinical Genetics. [Full Text]
Christensen N, Andersen H-J, Garne E, Wellesley D, Addor M-C, Haeusler M, Khoshnood B, Mullaney C, Rankin J and Tucker D (2013). Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival. Cardiology in the Young. 23: 560-567. [Full Text]
EUROCAT (2013). EUROCAT Newsletter March 2013. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Special Report: Coding of Congenital Heart Defects in the EUROCAT Database. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Newsletter December 2013. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT: A potential source of prevalence data for Orphanet. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Guide 1.4: Instructions for the registration of congenital anomalies. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Special Report: Primary Prevention of Congenital Anomalies in European Countries. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Special Report: Actions Towards European Environmental Surveillance: Feasibility of Environmental Linkage. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Special Report: Sources of Information on Medication Use in Pregnancy. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2013). EUROCAT Joint Action 2nd Activity Report January 2012 to December 2012. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT and EUROPLAN (2013). Primary Prevention of Congenital Anomalies: Recommendations on Policies to be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases. EUROCAT Central Registry, University of Ulster. [Full text]
Khoshnood B, Loane M, Garne E, Addor M-C, Arriola L, Bakker M, Barisic I, Bianca S, Boyd P, Calzolari E, Doray B, Draper E, Gatt M, Haeusler M, Klungsoyr K, Latos- Bielenska A, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Salvador J, Tucker D, Verellen-Dumoulin C, Wellesley D, Zymak-Zakutnya, N and Dolk H (2013). Recent decrease in the prevalence of congenital heart defects in Europe. Journal of Pediatrics. 162: (1). 108-113. [Abstract]
Loane M, Morris J, Addor M-C, Arriola L, Budd J, Doray B, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos- Bielenska A, McDonnell R, Mullaney C, O'Mahony M, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Salvador J, Tucker D, Wellesley D, Yevtushok L and Dolk H (2013). Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. European Journal of Human Genetics. 21: 27-33. [Full text]
Luteijn M, Brown MJ and Dolk H (2013). Influenza and congenital anomalies: a systematic review and meta-analysis. Human Reproduction. [Full text]
Murray C, Richards M, Newton J, Fenton K, Anderson RH, Atkinson C, Bennett D, Bernabe E, Blencowe H, Bourne R, Braithwaite T, Brayne C, Bruce N, Brugha T, Burney P, Dherani M, Dolk H and et al (2013). UK health performance: findings of the Global Burden of Disease Study 2010. The Lancet. 381: (9871). 997-1020. [Abstract]
Murray C, Vos T, Lozano R, Naghavi M, Flaxman A, Michaud C, Ezzati M, Shibuya K, Salomon J, Dolk H, Loane M and et al (2013). Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. The Lancet. 380: (9859). 2197-2223. [Abstract]
Reid H, Yarnell J and Dolk H (2013). 16. Maternal and child health. In "Epidemiology and Disease Prevention: A Global Approach" (2nd Ed). Oxford Unviersity Press. 236-261.
Vos T, Flaxman A, Naghavi M, Lozano R, Michaud C, Ezzati M, Shibuya K, Salomon J, Dolk H, Loane M and et al (2013). Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. The Lancet. 380: (9859). 2163-2196. [Abstract]
Vrijheid M, Bianchi F, Nelen V, Thys G, Rankin J and Martos C (2013). Actions towards European environmental surveillance: Feasibility of environmental linkage. A report created within WP6 of the EUROCAT Joint Action. [Full text]
Wijers CHW, van Rooij IALM, Bakker M, Marcelis CLM, Addor M-C, Barisic I, Beres J, Bianca S, Bianchi F, Calzolari E, Greenlees R, Lelong N, Latos- Bielenska A, Dias C M, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnya, N, I de Blaauw, Roeleveld N and de Walle H (2013). Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions. British Journal of Gynaecology. [Full text]
Barisic I, Loane M, Curran R, Garne E, Vrijheid M, Taruscio D, Morris J, Bakker M, Irgens L, Calzolari E, Khoshnood B, Wellesley D and Dolk H (2012). Joint Action EUROCAT 2011-2013 funded by the Public Health Programme 2008-2013 of the European Commission. Croatian Journal of Public Health. 8: (31). 25-32. [Full text]
Best KE, Tennant P, Addor M-C, Bianchi F, Boyd P, Calzolari E, Dias C M, Doray B, Draper E, Garne E, Gatt M, Greenlees R, Haeusler M, Khoshnood B, McDonnell R, Mullaney C, Nelen V, Randrianaivo-Ranjatoelina H, Rissmann A, Salvador J, Tucker D, Wellesley D and Rankin J (2012). Epidemiology of small intestinal atresia in Europe: a register-based study. Archives of Disease in Childhood - Fetal and Neonatal Edition. 97: F353-F358. [Full text]
Boyd P, Rounding C, Chamberlain P, Wellesley D and Kurinczuk J (2012). The evolution of prenatal screening and diagnosis and its impact on an unselected population over an 18-year period.. British Journal of Obstetrics and Gynaecology. 119: (9). 1131-1140. [Full Text]
Dolk H, de Jong-van den Berg L, Loane M, Wang, H and Morris J (2012). Newer anticonvulsants: Lamotrigine. Birth Defects Research Part A Clinical and Molecular Teratology. 94: 959 [Full Text]
EUROCAT (2012). EUROCAT Newsletter March 2012. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2012). EUROCAT Statistical Monitoring Executive Summary 2009. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2012). EUROCAT Statistical Monitoring Report 2009. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2012). EUROCAT Special Report: Congenital Anomalies are a Major Group of Mainly Rare Diseases. EUROCAT Central Registry, University of Ulster. [Full text]
EUROCAT (2012). EUROCAT Joint Action 1st Activity Report January 2011 to December 2011. EUROCAT Central Registry, University of Ulster. [Full text]
Garne E, Loane M, Dolk H, Barisic I, Addor M-C, Arriola L, Bakker M, Calzolari E, Dias C M, Doray B, Gatt M, Klungsoyr K, Nelen V, O'Mahony M, Pierini A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Tucker D, Verellen-Dumoulin C and Wiesel A (2012). Spectrum of congenital anomalies in pregnancies with pregestational diabetes. Birth Defects Research (Part A). 94: 134-140. [Full text]
Howe DT, Rankin J and Draper E (2012). Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound in Obstetrics and Gynecology. 39: (1). 75-82. [Full Text]
Luteijn M, Dolk H and EUROCAT Working Group (2012). Seasonality of Congenital Anomalies in Europe, from '4th Congress of European Academy of Paediatric Societies', 5-9 October 2012, Istanbul. Archives of Disease in Childhood. 97: (S2). A72-A73. [Abstract]
Modell B, Berry RJ, Boyle CA, Christianson A, Darlison M, Dolk H, Howson CP, Mastroiacovo P, Mossey P and Rankin J (2012). Global, Regional and National Causes of Child Mortality. The Lancet. 380: (3). 1556 [Full text]
Nassar N, Leoncini E, Amar E, Arteaga-Vazquez J, Bakker M, Bower C, Canfield M, Castilla E, Cocchi G, Correa A, Csaky-Szunyogh M, Feldkamp M, Khoshnood B, Landau D, Lelong N, Lopez-Camelo J, Lowry B, McDonnell R, Merlob P, Metneki J, Morgan M, Mutchinick O, Palmer NM, Rissmann A, Siffel C, Sipek A, Szabova E, Tucker D and Mastroiacovo P (2012). Prevalence of esophageal atresia among 18 International Birth Defects Surveillance Programs. Birth Defects Research (Part A). 94: 893-899. [Full Text]
Pedersen R, Calzolari E, Husby S, Garne E and EUROCAT Working Group (2012). Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions. Archives of Disease in Childhood. 97: 227-232. [Full Text]
Wellesley D, Dolk H, Boyd P, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, Mullaney C, Calzolari E, Bakker M, Salvador J, Addor M-C, Draper E, Rankin J and Tucker D (2012). Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population based congenital anomaly registers in Europe. European Journal of Human Genetics. 20: (5). 521-526. [Full Text]
Wemakor, A, Dolk H, Casson K and de Jong-van den Berg L (2012). Prevalance and patterns of antidepressant use among women of reproductive age in Northern Ireland (NI). Pharmacoepidemiology and Drug Safety. 21: (3). 426 [Abstract]
Bermejo E, Cuevas L, Amar E, Bakker M, Bianca S, Bianchi F, Canfield M, Castilla E, Clementi M, Cocchi G, Feldkamp M, Landau D, Leoncini E, Li Z, Lowry B, Mastroiacovo P, Mutchinick O, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E and Martinez-Frias M-L (2011). Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: 288-304. [Full Text]
Botto L, Feldkamp M, Amar E, Carey J, Castilla E, Clementi M, Cocchi G, de Walle H, Halliday J, Leoncini E, Li Z, Lowry B, Marengo L, Martinez-Frias M-L, Merlob P, Morgan M, Luna-Munoz L, Rissmann A, Ritvanen A, Scarano G and Mastroiacovo P (2011). Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: (262). 273 [Full Text]
Boyd P, Barisic I, Haeusler M, Loane M, Garne E and Dolk H (2011). Paper 1: The EUROCAT network: organization and processes. Birth Defects Research (Part A). 91: 2-15. [Full Text]
Boyd P, Haeusler M and Barisic I (2011). EUROCAT Report 9: Surveillance of Congenital Anomalies in Europe 1980-2008. Birth Defects Research (Part A). 91: S1 [Full Text]
Boyd P, Loane M, Garne E, Khoshnood B, Dolk H and EUROCAT Working Group (2011). Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. European Journal of Human Genetics. 19: 231-234. [Abstract]
Boyd P, Tonks A, Rankin J, Rounding C, Wellesley D and Draper E (2011). Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. Journal of Medical Screening. 18: (1). 2-7. [Abstract]
Crijns H, Jentink J, Garne E, Gispen-de Wied C, Straus S, de Jong-van den Berg L and EUROCAT Working Group (2011). The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population. Journal of Rheumatology. 38: (9). 1871-1874. [Abstract]
Dolk H, Loane M, Garne E and EUROCAT Working Group (2011). Congenital heart defects in Europe: Prevalence and perinatal mortality, 2000 to 2005. Circulation. 123: 841-849. [Full Text]
EUROCAT (2011). EUROCAT Statistical Monitoring Protocol 2009. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2011). EUROCAT Statistical Monitoring Report 2008. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2011). EUROCAT Statistical Monitoring Protocol 2008. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2011). EUROCAT Leaflet: EUROCAT Joint Action 2011-2013. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2011). EUROCAT Report 9. Birth Defects Research Part A Clinical and Molecular Teratology. 91: (S1). S1-S100. [Full Text]
Feldkamp M, Botto L, Amar E, Bakker M, Bermejo E, Bianca S, Canfield M, Castilla E, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry B, Mastroiacovo P, Merlob P, Morgan M, Mutchinick O, Rissmann A, Ritvanen A, Siffel C and Carey J (2011). Cloacal Exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: 333-343. [Full Text]
Garne E, Dolk H, Loane M, Wellesley D, Barisic I, Calzolari E and Densem J (2011). Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases. Birth Defects Research (Part A). 91: S44-S50. [Full Text]
Greenlees R, Neville A, Addor M-C, Amar E, Arriola L, Bakker M, Boyd P, Calzolari E, Doray B, Draper E, Vollset S E, Garne E, Gatt M, Haeusler M, Kallen K, Khoshnood B, Latos- Bielenska A, Martinez-Frias M-L, Materna-Kiryluk A, Dias C M, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Ritvanen A, Salvador J, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D and Wertelecki W (2011). Paper 6: EUROCAT member registries: organization and activities. Birth Defects Research (Part A). 91: S51-S100. [Full Text]
Int'l Federation for Spina Bifida & Hydrocephalus (2011). Act against Europe's most common birth defect: one year on. Defining Neural Tube Defects in Europe. [Full text]
Khoshnood B, Greenlees R, Loane M, Dolk H, EUROCAT Project Management Committee and EUROCAT Working Group (2011). Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth Defects Research (Part A). 91: S16-S22. [Full Text]
Loane M, Dolk H, Garne E, Greenlees R and EUROCAT Working Group (2011). Paper 3: EUROCAT Data Quality Indicators for population-based registries of congenital anomalies. Birth Defects Research (Part A). 91: S23-S30. [Full Text]
Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J and EUROCAT Working Group (2011). Paper 4: EUROCAT Statistical Monitoring: Identification of ten year trends of congenital anomalies in Europe. Birth Defects Research (Part A). 91: S31-S43. [Full Text]
Luteijn M, Dolk H and Marnoch G (2011). Difference in pandemic influenza vaccination policies for pregnant women in Europe. BioMed Central Public Health. 11: 819 [Full Text]
Midelfart Hoff J, Loane M, Gilhus N, Rasmussen S and Daltveit A (2011). Arthrogryposis Multiplexa Congenita – An epidemiologic study of nearly 9 million births in 24 EUROCAT registers. European Journal of Obstetrics & Gynecology and Reproductive Biology. 159: (2). 347-350. [Full Text]
Mutchinick O, Luna-Munoz L, Amar E, Bakker M, Clementi M, Cocchi G, Da Graca Dutra M, Feldkamp M, Landau D, Leoncini E, Li Z, Lowry B, Marengo L, Martinez-Frias M-L, Mastroiacovo P, Metneki J, Morgan M, Pierini A, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E and Arteaga-Vazquez J (2011). Conjoined Twins: A worldwide collaborative epidemiologic study of the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: 274-287. [Full Text]
Orioli I, Amar E, Arteaga-Vazquez J, Bakker M, Bianca S, Botto L, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, Li Z, Lopez-Camelo J, Lowry B, Marengo L, Martinez-Frias M-L, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E and Castilla E (2011). Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and literature review. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: 358-373. [Full Text]
Orioli I, Amar E, Bakker M, Bermejo E, Bianchi F, Canfield M, Clementi M, Correa A, Csaky-Szunyogh M, Feldkamp M, Landau D, Leoncini E, Li Z, Lowry B, Mastroiacovo P, Morgan M, Mutchinick O, Rissmann A, Ritvanen A, Scarano G, Szabova E and Castilla E (2011). Cyclopia: A epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: 344-357. [Full Text]
Siffel C, Correa A, Amar E, Bakker M, Bermejo E, Bianca S, Castilla E, Clementi M, Cocchi G, Csaky-Szunyogh M, Feldkamp M, Landau D, Leoncini E, Li Z, Lowry B, Marengo L, Mastroiacovo P, Morgan M, Mutchinick O, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E and Olney R (2011). Bladder Exstrophy: An epidemiologic study from the Intenrational Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 157: 321-332. [Full Text]
Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Nyrelid A, Mastroiacovo P, Amar E, Bakker M, Correa A, Doray B, Klungsoyr K, Khoshnood B, Landau D, Mutchinick O, Pierini A, Ritvanen A, Ruddock V, Scarano G, Sibbald B, Sipek A, Tenconi R, Tucker D and Anneren G (2010). International trends of Down syndrome 1993-2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Research (Part A). 88: 474-479. [Full Text]
de Souza E, Morris J and EUROCAT Working Group (2010). Case-control analysis of paternal age and trisomic anomalies. Archives of Disease in Childhood. [Full Text]
Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, Francois G, Verellen-Dumoulin C, Sznajer Y, Moncla A, Benateau H, Claes K, Devriendt K, Mathieu M, Van Maldergem L, Addor M-C, Drouin-Garraud V, Mortier G, Bouma M, Dieux-Coeslier A, Genevieve D, Goldenberg A, Gozu A, Makrythanasis P, McEntagart M, Sanchez A, Vilain C, Vermeer S, Connell F, Verheij J, Manouvrir S, Pierquin G, Odent S, Holder-Espinasse M, Vincent-Delorme C, Gillerot Y, Vanwijck R, Bayet B and Vikkula M (2010). IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients: identification of a new type of minor VWS sign. Molecular Syndromology. 1: 67-74. [Full Text]
Dolk H, Armstrong B, Lachowycz K, Vrijheid M, Rankin J, Abramsky L, Boyd P and Wellesley D (2010). Ambient air pollution and risk of congenital anomalies in England 1991-1999. Occupational and Environmental Medicine. 67: (4). 223-237. [Abstract]
Dolk H, Loane M and Garne E (2010). The prevalence of congenital anomalies in Europe. Advances in Experimental Medicine & Biology. 686: 349-364. [Abstract]
Dolk H, Loane M, Abramsky L, de Walle H and Garne E (2010). Response to birth prevalence of congenital heart disease: Letter to the Editor. Epidemiology. 21: (2). 275-277. [Full Text]
Dolk H, Pattenden S, Bonellie S, Colver A, King A, Kurinczuk J, Parkes J, Platt M and Surman G (2010). Socio-economic inequalities in cerebral palsy prevalence in the United Kingdom: A Register-based study. Paediatric & Perinatal Epidemiology. 24: 149-155. [Full Text]
EUROCAT (2010). EUROCAT Statistical Monitoring Protocol 2007. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2010). EUROCAT Statistical Monitoring Report 2007. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2010). EUROCAT Newsletter October 2010. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2010). Special Report: Prenatal Screening Policies in Europe 2010. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2010). EUROCAT Final Activity Report to European Commission September 2007 to August 2010. EUROCAT Central Registry, University of Ulster. [Full Text]
Garne E, Dolk H, Loane M, Boyd P and EUROCAT Working Group (2010). EUROCAT website data on prenatal detection rates of congenital anomalies. Journal of Medical Screening. 17: (2). 97-98. [Abstract]
Garne E, Khoshnood B, Loane M, Boyd P and Dolk H (2010). Termination of pregnancy for fetal anomaly after 23 weeks of gestation: a European Register-based study. British Journal of Gynaecology. 117: (6). 660-666. [Full Text]
Garne E, Loane M and Dolk H (2010). Congenital Heart Defects in Europe 2000-2005, Abstract from 44th annual meeting of the Association for European Paediatric Cardiology (AEPC). Cardiology. 20: (2). S2 [Abstract]
Garne E, Loane M, Addor M-C, Boyd P, Barisic I and Dolk H (2010). Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions. European Journal of Paediatric Neurology. 14: 150-155. [Abstract]
Jentink J, Dolk H, Loane M, Morris J, Wellesley D, Garne E, de Jong-van den Berg L and EUROCAT Antiepileptic Study Working Group (2010). Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study. British Medical Journal. 341: C6581 [Full Text]
Jentink J, Loane M, Dolk H, Barisic I, Garne E, Morris J and de Jong-van den Berg L (2010). Valproic acid use in pregnancy and congenital malformations (Reply letter Vajda/O'Brien). The New England Journal of Medicine. 363: (18). 1771-1772. [Full Text]
Jentink J, Loane M, Dolk H, Barisic I, Garne E, Morris J, de Jong-van den Berg L and EUROCAT Antiepileptic Study Working Group (2010). Valproic acid monotherapy in pregnancy and major congenital malformations. The New England Journal of Medicine. 362: (23). 2185-2193. [Full Text]
Lisi A, Botto L, Robert-Gnansia E, Castilla E, Bakker M, Bianca S, Cocchi G, de Vigan C, Dutra Mda G, Horacek J, Merlob P, Pierini A, Scarano G and Sipek A (2010). Surveillance of adverse fetal effects of medications (SAFE-med): findings from the International Clearinghouse of Birth Defects Surveillance and Research. Reproductive Toxicology. 29: (4). 433-442. [Full Text]
Loane M, Dolk H and EUROCAT Working Group (2010). Prevalence of Neural Tube Defects (NTD) in Younger Mothers in Europe 2000-2008: Analysis of the EUROCAT Database - Report to Bayer Schiering Pharma. EUROCAT Central Registry, University of Ulster.
Neville A and de Walle H (2010). Prevention of neural tube defects by periconceptional folic acid supplementation in Europe. Gynaecology. 15: (4). 16-20.
Rankin J, Cans C, Garne E, Colver A, Dolk H, Uldall P, Amar E and Krageloh-Mann I (2010). Congenital anomalies in children with cerebral palsy: a population-based record linkage study. Developmental Medicine & Child Neurology. 52: 345-351. [Full Text]
Dolk H and EUROCAT Project Management Committee (2009). What is the "primary" prevention of congenital anomalies?. The Lancet. 372: 378 [Full Text]
Draper E, Rankin J, Tonks A, Boyd P, Wellesley D, Tucker D, Budd J and BINOCAR Management Committee (2009). Congenital abnormalities: data needed to establish causes. British Medical Journal. 339: b3428 [Full Text]
EUGLOREH 2007 (2009). The Status of Health in the European Union: Towards a Healthier Europe. EU Public Health Programme Project, Global Report on the Health Status in the European Union. [Full Text]
EUROCAT (2009). Special Report: Congenital Heart Defects in Europe, 2000-2005. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2009). Special Report: The Status of Health in the European Union: Congenital Malformations. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2009). Special Report: Prevention of Neural Tube Defects by Periconceptional Folic Acid Supplementation in Europe. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2009). EUROCAT Newsletter December 2009. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2009). EUROCAT Statistical Monitoring Report 2006. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2009). EUROCAT Short Report: Congenital Anomalies Diagnosed After Age 1 Year and Their Impact on Prevalence. EUROCAT Central Registry, University of Ulster. [Full text]
Garne E and de Walle H (2009). Letters to the Editor: Parental age and congenital malformations. Paediatric & Perinatal Epidemiology. 23: 279 [Full Text]
Garne E, Loane M, Wellesley D, Barisic I and EUROCAT Working Group (2009). Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe. Journal of Pediatric Urology. 5: 47-52. [Abstract]
Loane M, Dolk H, Morris J and EUROCAT Working Group (2009). Maternal age-specific risk of non-chromosomal anomalies. British Journal of Gynaecology. 116: 1111-1119. [Full Text]
Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H and EUROCAT Working Group (2008). Descriptive epidemiology of Cornelia de Lange syndrome in Europe. American Journal of Medical Genetics Part A. 146A: 51-59. [Full Text]
Boyd P, de Vigan C, Khoshnood B, Loane M, Garne E, Dolk H and EUROCAT Working Group (2008). Survey of prenatal screening policies in Europe for structure malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. British Journal of Gynaecology. 115: 689-696. [Full Text]
Dolk H, Jentink J, Loane M, Morris J, de Jong-van den Berg L and EUROCAT Antiepileptic Drug Working Group (2008). Does Lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations. Neurology. 71: 714-722. [Abstract]
Draper E, Rankin J, Tonks A, Abrams KR, Field DJ, Clarke M and Kurinczuk J (2008). Recreational drug use: a major risk factor for gastroschisis?. American Journal of Epidemiology. 167: (4). 485-491. [Full Text]
EUROCAT (2008). EUROCAT Newsletter October 2008. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2008). EUROCAT Statistical Monitoring Protocol. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2008). EUROCAT Statistical Monitoring Report 2005. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2008). EUROCAT Final Activity Report to European Commission March 2004 to August 2007. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2008). EUROCAT Newsletter January 2008. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2008). EUROCAT: European Surveillance of Congenital Anomalies. The Parliament Magazine. 274: 20 [Full Text]
EUROCAT (2008). EUROCAT Guide 6: Definition and Coding of Syndromes (Revised Ed). EUROCAT Central Registry, University of Ulster. [Full Text]
EURO-PERISTAT Project and Collaboration with SCPE, EUROCAT, EURONEOSTAT (2008). European Perinatal Health Report: Better Statistics for Better Health for Pregnant Women and Their Babies. EURO-PERISTAT. [Full Text]
Garne E, Cans C, Dolk H, Holst S, Krageloh-Mann I and SCPE Collaborative Group (2008). Cerebral Palsy and Congenital Malformations. European Journal of Paediatric Neurology. 12: 82-88. [Full Text]
Garne E, Dolk H, Krageloh-Mann I, Holst S, Cans C and SCPE Collaborative Group (2008). Cerebral palsy and congenital malformations. European Journal of Paediatric Neurology. 12: 82-88. [Abstract]
Leoncini E, Barabella G, Orioli I, Anneren G, Bakker M, Bianchi F, Bower C, Canfield M, Castilla E, Cocchi G, Correa A, de Vigan C, Doray B, Feldkamp M, Gatt M, Irgens L, Lowry B, Maraschini A, McDonnell R, Morgan M, Mutchinick O, Poetzsch S, Riley M, Ritvanen A, Robert-Gnansia E, Scarano G, Sipek A, Tenconi R and Mastroiacovo P (2008). Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations. Birth Defects Research (Part A). 82: 585-591. [Full Text]
Nieuwenhuijsen M, Toledano M, Bennett J, Best N, Hambly P, de Hoogh C, Wellesley D, Boyd P, Abramsky L, Dattani N, Fawell J, Briggs D, Jarup L and Elliott P (2008). Chlorination disinfection by-products and risk of congenital anomalies in England and Wales. Environmental Health Perspectives. 116: (2). 216-222. [Full Text]
Pedersen R, Garne E, Loane M, Korsholm L, Husby S and EUROCAT Working Group (2008). Infantile hypertrophic pyloric stenosis: a comparative study of incidence and other epidemiological characteristics in seven European regions. Journal of Maternal-Fetal and Neonatal Medicine. 21: (9). 599-604. [Full Text]
Rittler M, Lopez-Camelo J, Castilla E, Bermejo E, Cocchi G, Correa A, Csaky-Szunyogh M, Danderfer R, de Vigan C, de Walle H, de Graca Dutra M, Hirahara F, Martinez-Frias M-L, Merlob P, Mutchinick O, Ritvanen A, Robert-Gnansia E, Scarano G, Siffel C, Stoll C and Mastroiacovo P (2008). Preferential associations between oral clefts and other major congenital anomalies. Cleft Palate-Craniofacial Journal. 45: (5). 525-532. [Full Text]
Abramsky L, Dolk H and EUROCAT Folic Acid Working Group (2007). Should Europe fortify a staple food with folic acid?. The Lancet. 369: 641-642. [Full Text]
Armstrong B, Dolk H, Pattenden S, Vrijheid M, Loane M, Rankin J, Dunn C, Grundy C, Abramsky L, Boyd P, Stone D and Wellesley D (2007). Geographic variations and localised clustering of congenital anomalies in Great Britain. Emerging Themes in Epidemiology. 4: (14). [Full Text]
Calzolari E, Pierini A, Astolfi G, Bianchi F, Neville A, Rivieri F and EUROCAT Working Group (2007). Associated anomalies in multi-malformed infants with cleft lip and palate: an epidemiologic study of nearly 6 million births in 23 EUROCAT Registries. American Journal of Medical Genetics Part A. 143: (6). 528-537. [Full Text]
Dolk H (2007). EUROCAT: surveillance of environmental impact. In Congenital Diseases and the Environment. P Nicolopoulou-Stamati et al (eds). Springer Verlag. 131-145.
EUROCAT (2007). 9th European Symposium on the Prevention of Congenital Anomalies, 7-9 May 2007. [Full Text]
EUROCAT (2007). EUROCAT Statistical Monitoring Protocol. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2007). EUROCAT Statistical Monitoring Report 2004. EUROCAT Central Registry, University of Ulster. [Full Text]
Garne E, Loane M, Dolk H and EUROCAT Working Group (2007). Gastrointestinal malformations: impact of prenatal diagnosis on gestational age at birth. Paediatric & Perinatal Epidemiology. 21: 370-375. [Full Text]
Garne E, Loane M, Nelen V, Bakker M, Gener B, Abramsky L, Addor M-C and Queisser-Luft A (2007). Survival and health in liveborn infants with transposition of great arteries - a population based study. Congenital Heart Diseases. 2: (3). 165-169. [Abstract]
Loane M and Garne E (2007). Prevalence and pathogenesis of congenital anomalies in cerebral palsy - Letter to Editor. Archives of Disease in Childhood - Fetal and Neonatal Edition. e-pub: [Full Text]
Loane M, Dolk H, Bradbury I and EUROCAT Working Group (2007). Increasing prevalence of gastroschisis in Europe 1980-2002. Paediatric & Perinatal Epidemiology. 21: 363-369. [Full Text]
Mastroiacovo P, Lisi A, Castilla E, Martinez-Frias M-L, Bermejo E, Marengo L, Kucik J, Siffel C, Halliday J, Gatt M, Anneren G, Bianchi F, Canessa M, Danderfer R, de Walle H, Harris J, Li Z, Lowry B, McDonnell R, Merlob P, Mutchinick O, Robert-Gnansia E, Scarano G, Sipek A, Poetzsch S, Szabova E and Yevtushok L (2007). Gastroschisis and associated defects: an international study. American Journal of Medical Genetics Part A. 143A: 660-671. [Full Text]
Bianchi F, Bianca S, Dardanoni G, Linzalone N and Pierini A (2006). Congenital malformations in newborns residing in the municipality of Gela (Sicily, Italy). EP Anno. 30: (1). 19-26.
Botto L, Lisi A, Bower C, Canfield M, Dattani N, de Vigan C, de Walle H, Erickson E, Halliday J, Irgens L, Lowry B, McDonnell R, Metneki J, Poetzsch S, Ritvanen A, Robert-Gnansia E, Siffel C, Stoll C and Mastroiacovo P (2006). Trends of selected malformations in relation to folic acid recommendations and fortification. Birth Defects Research (Part A). 76: 693-705. [Full Text]
EUROCAT (2006). EUROCAT Special Report: Using capture-recapture methods to ascertain completeness of a Register. EUROCAT Central Registry, University of Ulster. [Full Text]
Meijer W, Cornel M, Dolk H, de Walle H, Armstrong N, de Jong-van den Berg L and EUROCAT Working Group (2006). The potential of the European Network on Congenital Anomaly Registers (EUROCAT) for drug safety surveillance: a descriptive study. Pharmacoepidemiology and Drug Safety. 15: 675-682. [Full Text]
Abramsky L, Busby A and Dolk H (2005). Promotion of perinconceptional folic acid has had limited success. Journal for the Royal Society for the Promotion of Public Health. 125: (5). 206-208. [Full Text]
Botto L, Lisi A, Robert-Gnansia E, Erickson E, Vollset S E, Mastroiacovo P, Botting B, Cocchi G, de Vigan C, de Walle H, Feijoo M, Irgens L, McDonnell R, Merlob P, Ritvanen A, Scarano G, Siffel C, Metneki J, Stoll C, Smithells R and Goujard J (2005). International Retrospective Cohort Study of Neural Tube Defects in relation to folic acid recommendations: are the recommendations working?. British Medical Journal. 330: (7491). 571 [Full Text]
Boyd P, Armstrong B, Dolk H, Botting B, Pattenden S, Abramsky L, Rankin J, Vrijheid M and Wellesley D (2005). Congenital anomaly surveillance in England: ascertainment deficiencies in the national system. British Medical Journal. 330: (7481). 27 [Full Text]
Busby A, Abramsky L, Dolk H, Armstrong B and EUROCAT Folic Acid Working Group (2005). Preventing neural tube defects in Europe: a population based study. British Medical Journal. 330: 574-575. [Full Text]
Busby A, Armstrong B and Dolk H (2005). Eye anomalies: seasonal variation and maternal viral infections. Epidemiology. 16: (3). 317-322. [Abstract]
Busby A, Armstrong B, Dolk H, Armstrong N, Haeusler M, Berghold A, Gillerot Y, Baguette A, Gjergja R, Barisic I, Christiansen M, Goujard J, Steinbicker V, Roesch C, McDonnell R, Scarano G, Calzolari E, Neville A, Cocchi G, Bianca S, Gatt M, de Walle H, Braz P, Latos- Bielenska A, Gener B, Portillo I, Addor M-C, Abramsky L, Ritvanen A, Robert-Gnansia E, Daltveit A, Anneren G, Ollars B and Edwards G (2005). Preventing neural tube defects in Europe: a missed opportunity. Reproductive Toxicology. 20: (3). 393-402. [Full Text]
Busby A, Ritvanen A, Dolk H, Armstrong N, de Walle H, Riano-Galan I, Gatt M, McDonnell R, Nelen V and Stone D (2005). Survey of informed consent for registration of congenital anomalies in Europe. British Medical Journal. 331: 140-141. [Full Text]
Chevrier C, Perret C, Bahuau M, Nelva A, Herman C, Francannet C, Robert-Gnansia E and Cordier S (2005). Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: an evaluation of the contribution of child and maternal genotypes. Birth Defects Research (Part A). 73: 114-122. [Full Text]
Dolk H (2005). Strategies for prevention. European Conference on Rare Diseases, Luxembourg 21-22 June. 165-167.
Dolk H (2005). EUROCAT: 25 years of European surveillance of congenital anomalies. Archives of Disease in Childhood - Fetal and Neonatal Edition. 90: (5). F355-F358. [Full Text]
Dolk H, Loane M, Garne E, de Walle H, Queisser-Luft A, de Vigan C, Addor M-C, Gener B, Haeusler M, Jordan H, Tucker D, Stoll C, Feijoo M, Lillis D and Bianchi F (2005). Trends and geographic inequalities in the livebirth prevalence of Down syndrome in Europe 1980-1999. Revue Epidemiologique Sante Publique. 53: 2S87-2S95. [Full Text]
EUROCAT (2005). EUROCAT Guide 1.3: Instructions for the registration of congenital anomalies. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2005). EUROCAT Special Report: Prenatal screening policies in Europe. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2005). EUROCAT Special Report: Prevention of neural tube defects by periconceptional folic acid supplementation in Europe, 2nd Ed. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2005). EUROCAT Annual report to WHO 2004-5. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2005). 8th European Symposium on the Prevention of Congenital Anomalies, 9-10 June 2005, Poznan, Poland. Archives of Perinatal Medicine Supplement. [Full Text]
Garbis H, Elefant E, Diav-Citrin O, Mastroiacovo P, Schaefer C, Vial T, Clementi M, Valti E, McElhatton P, Smorlesi C, Rodriguez EP, Robert-Gnansia E, Merlob P, Peiker G, Pexieder T, Schueler L, Ritvanen A and Mathieu M (2005). Pregnancy outcome after exposure to ranitidine and other H2-blockers. A collaborative study of the European Network of Teratology Information Services. Reproductive Toxicology. 19: (4). 453-458. [Abstract]
Garne E, Loane M, Dolk H, de Vigan C, Scarano G, Tucker D, Stoll C, Gener B, Pierini A, Nelen V, Roesch C, Gillerot Y, Feijoo M, Tincheva R, Queisser-Luft A, Addor M-C, Mosquera C, Gatt M and Barisic I (2005). Prenatal diagnosis of severe structural malformations in Europe. Ultrasound in Obstetrics and Gynecology. 25: (1). 6-11. [Full Text]
Lisi A, Botto L, Rittler M, Castilla E, Bianchi F, Botting B, de Walle H, Erickson JD, Gatt M, de Vigan C, Irgens L, Johnson W, Lancaster P, Merlob P, Mutchinick O, Ritvanen A, Robert-Gnansia E, Scarano G, Stoll C and Mastroiacovo P (2005). Sex and congenital malformations: an international perspective. American Journal of Medical Genetics Part A. 134A: 49-57. [Full Text]
Morris J, de Vigan C, Mutton D and Alberman E (2005). Risk of a Down syndrome live birth in women of 45 years of age and older. Prenatal Diagnosis. 25: 275-278. [Full Text]
Rankin J, Pattenden S, Abramsky L, Boyd P, Jordan H, Stone D, Vrijheid M, Wellesley D and Dolk H (2005). Prevalence of congenital anomalies in five British regions. Archives of Disease in Childhood - Fetal and Neonatal Edition. 90: 374-379. [Full Text]
Rubini M, Brusati R, Garattini G, Magnani C, Liviero F, Bianchi F, Tarantino E, Massei A, Pollastri S, Carturan S, Amadori A, Bertagnin E, Cavallaro A and Calzolari E (2005). Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate. American Journal of Medical Genetics Part A. 136A: 368-372. [Full Text]
Wellesley D, Boyd P, Dolk H and Pattenden S (2005). An aetiological classification of birth defects for epidemiological research. Journal of Medical Genetics. 42: (1). 54-57. [Full Text]
Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C and EUROSCAN Group (2005). Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. European Journal of Medical Genetics. 48: (2). 131-144. [Full Text]
Baena N, de Vigan C, Cariati E, Clementi M, Stoll C, Caballin M and Guitart M (2004). Turner syndrome: evaluation of prenatal diagnosis in 19 European registries. American Journal of Medical Genetics Part A. 129A: (1). 16-20. [Full Text]
Calzolari E, Bianchi F, Rubini M, Ritvanen A, Neville A and EUROCAT Working Group (2004). Epidemiology of cleft palate in Europe: implications for genetic research strategy. Cleft Palate-Craniofacial Journal. 41: (3). 244-249. [Full Text]
Dolk H (2004). Epidemiologic approaches to identifying environmental causes of birth defects. Seminars in Medical Genetics : Public Health Issue. Eds Rasmussen SA and Moore CA.. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 125C: 4-11. [Full Text]
Dolk H and Loane M (2004). Impact of multiple births on the prevalence of congenital anomalies in Europe. Journal of Epidemiology & Community Health. 58: (S1). A18 [Full Text]
Dolk H, Vrijheid M, Scott JES, Addor M-C, Botting B, de Vigan C, de Walle H, Garne E, Loane M, Pierini A, Garcia-Minaur S, Physick N, Tenconi R, Wiesel A, Calzolari E and Stone D (2004). Towards the effective surveillance of hypospadias. Environmental Health Perspectives. 112: (3). 398-402. [Full Text]
EUROCAT (2004). EUROCAT Guide 3 (2nd Ed): For the description and classification of congenital limb defects. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2004). EUROCAT Special Report: A review of environmental risk factors for congenital anomalies. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2004). 7th European Symposium on the prevention of congenital anomalies, 30 May 2003, Heidelberg, Germany. Reproductive Toxicology. 18: 135-156. [Full Text]
EUROCAT (2004). EUROCAT Final activity report to European Commission December 2001 to December 2003. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2004). EUROCAT Guide 6: Definition and Coding of Syndromes. EUROCAT Central Registry, University of Ulster. [Full Text]
Gajdos V, Bahuau M, Robert-Gnansia E, Francannet C, Cordier S and Bonaiti-Pellie C (2004). Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?. Annals de Genetique. 47: 29-39. [Full Text]
Garne E, Loane M, de Vigan C, Scarano G, de Walle H, Gillerot Y, Stoll C, Addor M-C, Stone D, Gener B, Feijoo M, Mosquera C, Gatt M, Queisser-Luft A, Baena N and Dolk H (2004). Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 Registries in Europe. Prenatal Diagnosis. 24: (11). 908-912. [Full Text]
Kallen K, Robert-Gnansia E, Castilla E, Mastroiacovo P and Kallen B (2004). Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE and OEIS). American Journal of Medical Genetics Part A. 127A: (1). 26-34. [Full Text]
Kroes HY, Olney R, Rosano A, Liu Y, Castilla E, Cocchi G, de Vigan C, Martinez-Frias M-L, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essan A, Cobben J and Cornel M (2004). Renal defects and limb deficiencies in 197 infants: is it possible to define the 'acrorenal syndrome'?. American Journal of Medical Genetics Part A. 129A: (2). 149-155. [Full Text]
Topp M, Huusom L, Langhoff-Roos J, Delhumeau C, Huton J and Dolk H (2004). Multiple birth and cerebral palsy in Europe: a multi-centre study. Acta Obstetricia et Gynecologica Scandinavica. 83: (4). 373-380. [Full Text ]
Wellesley D, de Vigan C, Baena N, Cariati E, Stoll C, Boyd P, Clementi M and EUROSCAN Group (2004). Contribution of Ultrasonographic Examination to the Prenatal Detection of Trisomy 21: Experience from 19 European Registers. Annals de Genetique. 47: 373-380. [Full Text]
Baena N, de Vigan C, Cariati E, Clementi M, Stoll C, Caballin M, Guitart M and EUROSCAN Group (2003). Prenatal detection of rare chromosomal autosomal abnormalities in Europe. American Journal of Medical Genetics Part A. 118a: 319-327. [Full Text]
Dolk H (2003). The Epidemiology of Hypospadias. In Hadidi AT and Azmy AF. Hypospadias Surgery: An Illustrated Guide. Springer Verlag. 51-57.
Dolk H and Vrijheid M (2003). The Impact of Environmental Pollution on Congenital Anomalies. In The Impact of Environmental Pollution on Health. British Medical Bulletin. 68: 25-45. [Full text]
EUROCAT (2003). EUROCAT Special Report: An Assessment and Analysis of Surveillance Data on Hypospadias in Europe. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2003). EUROCAT Special Report: Prevention of Neural Tube Defects by Periconceptional Folic Acid Supplementation in Europe (1st Ed). EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2003). EUROCAT Special Report: Using Capture-Recapture Methods to Ascertain Completeness of a Register: Case study and Methodological Considerations. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2003). A Study of the Geographical Variation in overall rates of Congenital Abnormalities and the Rates of Specific Abnormalities. EUROCAT Central Registry, University of Ulster.
EUROCAT (2003). EUROCAT Annual Report to WHO 2003. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2003). EUROCAT Policy Regarding Security, Confidentiality, Release and Publication of Data. EUROCAT Central Registry, University of Ulster. [Full Text]
Harris J, Francannet C, Pradat P and Robert-Gnansia E (2003). The Epidemiology of Cardiovascular Defects. Part 2: A study based on data from three large registries of congenital malformations. Pediatric Cardiology. 24: 222-235. [Full Text]
ICBDMS and EUROCAT (2003). World Atlas of Birth Defects II. World Health Organisation.
Pradat P, Francannet C, Harris J and Robert-Gnansia E (2003). The Epidemiology of Cardiovascular Defects. Part I: A study based on data from three large registries of congenital malformations. Pediatric Cardiology. 24: (3). 195-221. [Full Text]
Stoll C, Clementi M and EUROSCAN Group (2003). Prenatal Diagnosis of Dysmorphic Syndromes by Routine Fetal Ultrasound Examination Across Europe. Ultrasound in Obstetrics and Gynecology. 21: (6). 543-551. [Full Text]
Vrijheid M and EUROHAZCON Collaborative Group (2003). Risk of Congenital Anomaly in Relation to Residence Near Hazardous Waste Landfill Sites. EUROCAT Central Registry, University of Ulster.
Vrijheid M, Armstrong B, Dolk H, van Tongeren M and Botting B (2003). Risk of hypospadias in relation to maternal occupational exposure to endocrine disrupting chemicals. Occupational and Environmental Medicine. 60: (8). 543-550. [Full Text]
Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Redlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick O, Lopez MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martinez-Frias M-L, Gallagher MJ, Erickson JD, Vollset S E, Mastroiacovo P, Andria G and Botto L (2003). Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): Findings from over 7000 newborns from 16 areas worldwide. Journal of Medical Genetics. 40: (8). 619-625. [Full Text]
Armstrong B, Busby A and Dolk H (2002). Using capture-recapture methods to ascertain completeness of the Anophthalmia Register. Department of Health.
Cuschieri A and EUROCAT Working Group (2002). Anorectal anomalies associated with or part of other anomalies. American Journal of Medical Genetics Part A. 110: (2). 122-130. [Full Text]
Dolk H (2002). Methodological issues related to epidemiological assessment of health risks of waste management. In: Environmental and Health Impact of Solid Waste Management Activities. Issues in Environmental Science and Technology, No 18. . Royal Society of Chemistry. 195-210.
Dolk H and McElhatton P (2002). Assessing epidemiological evidence for the teratogenic effects of anticonvulsant medications. Journal of Medical Genetics. 39: (4). 243-244. [Full Text]
EUROCAT (2002). EUROCAT Guide 1.2: Instructions for the registration of congenital anomalies. EUROCAT Central Registry, University of Ulster.
EUROCAT (2002). EUROCAT Report 8: Surveillance of congenital anomalies in Europe 1980-1999. EUROCAT Central Registry, University of Ulster.
EUROCAT (2002). EUROCAT Report 8 Annex: Surveillance of congenital anomalies in Europe 1980-1999. EUROCAT Central Registry, University of Ulster.
EUROCAT (2002). EUROCAT Special Report: EUROCAT and Orofacial Clefts: The Epidemiology of Orofacial Clefts in 30 European Regions. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2002). EUROCAT Special Report: Risk of congenital anomaly in relation to residence near hazardous waste landfill sites. EUROCAT Central Registry, University of Ulster. [Full Text]
EUROCAT (2002). An assessment and analysis of existing surveillance data on hypospadias in UK and Europe. EUROCAT Central Registry, University of Ulster.
EUROCAT (2002). Abstracts from the 6th European (EUROCAT) Symposium on the prevention of congenital anomalies - Catania, Sicily, Italy. Reproductive Toxicology. 16: (1). 81-95. [Full Text]
EUROCAT (2002). Final activity report to European Commission, November 2000 to April 2002. EUROCAT Central Registry, University of Ulster. [Full Text]
Garne E, Haeusler M, Barisic I, Gjergja R, Stoll C, Clementi M and EUROSCAN Group (2002). Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound in Obstetrics and Gynecology. 19: (4). 329-333. [Full Text]
Haeusler M, Berghold A, Stoll C, Barisic I, Clementi M and EUROSCAN Group (2002). Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries. Prenatal Diagnosis. 22: (7). 616-623. [Full Text]
van Tongeren M, Nieuwenhuijsen M, Gardiner K, Armstrong B, Vrijheid M, Dolk H and Botting B (2002). A job exposure matrix for potential endocrine disrupting chemicals developed for a study into the association between maternal occupational exposure and hypospadias. Annals of Occupational Hygiene. 46: (5). 465-477. [Full Text]
Vrijheid M, Dolk H and Armstrong B (2002). Hazard potential ranking of landfill sites and risk of congenital anomalies. Occupational and Environmental Medicine. 59: (11). 768-776. [Full Text]
Vrijheid M, Dolk H, Armstrong B, Abramsky L, Bianchi F, Fazarinc I, Garne E, Ide R, Nelen V, Robert-Gnansia E, Scott JES, Stone D and Tenconi R (2002). Chromosomal congenital anomalies and residence near hazardous waste landfill sites. The Lancet. 359: 320-322. [Abstract]
Barisic I, Clementi M, Haeusler M, Gjergja R, Kern J, Stoll C and EUROSCAN Group (2001). Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound in Obstetrics and Gynecology. 18: 309-316. [Full Text]
Cuschieri A and EUROCAT Working Group (2001). Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. American Journal of Medical Genetics Part A. 103: (3). 207-215. [Full Text]
de Vigan C, Baena N, Cariati E, Clementi M, Stoll C and EUROSCAN Group (2001). Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe. Annals de Genetique. 44: 209-217. [Full Text]
de Vigan C, Baena N, Cariati E, Clementi M, Stoll C and EUROSCAN Group (2001). Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe. Annals de Genetique. 44: 209-217. [Full Text]
Dolk H (2001). EUROCAT: European Surveillance of Congenital Anomalies. Chemical Incident Report. 20: 15-18.
Garne E and EUROCAT Working Group (2001). Prenatal diagnosis of six major cardiac malformations in Europe - a population based study. Acta Obstetricia et Gynecologica Scandinavica. 80: (3). 224-228. [Full Text]
Garne E, Berghold A, Johnson Z and Stoll C (2001). Different policies on prenatal ultrasound screening programmes and induced abortions explain regional variations in infant mortality with congenital malformations. Fetal Diagnosis and Therapy. 16: (3). 153-157. [Abstract]
Garne E, Stoll C, Clementi M and EUROSCAN Group (2001). Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European Registries. Ultrasound in Obstetrics and Gynecology. 17: (5). 386-391. [Full Text]
McNamee R and Dolk H (2001). Does exposure to landfill waste harm the fetus?. British Medical Journal. 323: (7309). 351-352. [Full Text]
Rockenbauer M, Olsen J, Czeizel AE, Pedersen L, Sorensen HT and EuroMAP-group (2001). Recall bias in a case-control surveillance system on the use of medicine during pregnancy. Epidemiology. 12: 461-466. [Full Text]
Stoll C and Tenconi R (2001). Detection of congenital anomalies by fetal ultrasonographic examination across Europe. Community Genetics. 4: (4). 225-232. [Abstract]
Stoll C, Garne E, Clementi M and EUROSCAN Group (2001). Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe. Prenatal Diagnosis. 21: (4). 243-252. [Full Text]
Stoll C, Garne E, Clementi M and EUROSCAN Group (2001). Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe. Prenatal Diagnosis. 21: 243-252. [Full Text]
Stoll C, Rosano A, Botto L, Erickson JD, Khoury M, Olney R, Castilla E, Cocchi G, Cornel M, Goujard J, Bermejo E, Merlob P, Mutchinick O, Ritvanen A, Zampino G and Mastroiacovo P (2001). On the symmetry of limb deficiencies among children with multiple congenital anomalies. Annals de Genetique. 44: (1). 19-24. [Full Text]
Stoll C, Tenconi R, Clementi M and EUROSCAN Group (2001). Detection of congenital anomalies by fetal ultrasonographic examination across Europe. Community Genetics. 4: 225-232. [Abstract]
Wellesley D and Boyd P (2001). Congenital anomaly registers in the UK: Funding and staffing in an ideal world. BINOCAR Conference 2001 in Report from ONS.
Arpino C, Brescianini S, Robert-Gnansia E, Castilla E, Cocchi G, Cornel M, de Vigan C, Lancaster P, Merlob P, Sumiyoshi Y, Zampino G, Renzi C, Rosano A and Mastroiacovo P (2000). Teratogenic effects of antiepileptic drugs: use of an international database on malformations and drug exposure (MADRE). Epilepsia. 41: (11). 1436-1443. [Full Text]
Barisic I, Haeusler M, Clementi M, Gjergja R and Stoll C (2000). Prenatal ultrasound detection of abdominal wall defects: associated malformations, chromosomal abnormalities and pregnancy outcome. (Programme and Abstracts of the European Human Genetics Conference 2000). European Journal of Human Genetics. 8: (1). 61
Blatter BM, Roeleveld N, Bermejo E, Martinez-Frias M-L, Siffel C and Czeizel AE (2000). Spina bifida and parental occupation: results from three malformation monitoring programs in Europe. European Journal of Epidemiology. 16: (4). 343-351. [Full Text]
Boyd P, Wellesley D, de Walle H, Tenconi R, Garcia-Minaur S, Zandwijken G, Stoll C and Clementi M (2000). Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening. 7: (4). 169-174. [Full Text]
Clementi M, Tenconi R, Bianchi F, Stoll C and EUROSCAN Group (2000). Evaluation of prenatal diagnosis of cleft lip with or without cleft palate by ultrasound: experience from 20 European Registries. Prenatal Diagnosis. 20: (11). 870-875. [Full Text]
Rosano A, Botto L, Olney R, Khoury M, Ritvanen A, Goujard J, Stoll C, Cocchi G, Merlob P, Mutchinick O, Cornel M, Castilla E, Martinez-Frias M-L, Zampino G, Erickson JD and Mastroiacovo P (2000). Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. American Journal of Medical Genetics Part A. 93: (2). 110-116. [Full Text]
Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M and EUROSCAN Group (2000). Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenatal Diagnosis. 20: (10). 811-818. [Full Text]
Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M and EUROSCAN Group (2000). Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenatal Diagnosis. 20: 811-818. [Full Text]
Vrijheid M (2000). Health effects of residence near hazardous waste landfill sites: a review of epidemiological literature. Environmental Health Perspectives. 108: (S1). 101-112. [Full Text]
Vrijheid M, Dolk H, Stone D, Abramsky L, Alberman E and Scott JES (2000). Socioeconomic inequalities in risk of congenital anomaly. Archives of Disease in Childhood. 82: (5). 349-352. [Full Text]
Abramsky L, Botting B, Chapple J and Stone D (1999). Has advice on periconceptional folate supplementation reduced neural tube defects?. British Medical Journal. 354: 998
de Vigan C, de Walle H, Cordier S, Goujard J, Knill-Jones R, Ayme S, Calzolari E, Bianchi F and OECM Working Group (1999). Therapeutic drug use during pregnancy: a comparison in four European countries. Journal of Clinical Epidemiology. 52: (10). 977-982. [Full Text]
de Wals P (1999). Investigation of clusters of adverse reproductive outcomes, an overview. European Journal of Epidemiology. 15: (9). 871-875. [Full Text]
Dolk H (1999). The role of the assessment of spatial variation and clustering in environmental surveillance of birth defects. European Journal of Epidemiology. 15: 839-845. [Full Text]
Dolk H, Nichols R and EUROCAT Working Group (1999). Evaluation of the impact of Chernobyl on the prevalence of congenital anomalies in 16 regions of Europe. International Journal of Epidemiology. 28: (5). 941-948. [Full Text]
EUROCAT (1999). Cluster assessment strategy for Europe. European Journal of Epidemiology. 15: (9). 820
EUROCAT (1999). Prevalence of congenital Anomalies in Europe 1995-6: Update to report 7. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT and ICBDMS (1999). EUROCAT-ICBDMS International Symposium on registration and prevention of congenital anomalies. Reproductive Toxicology. 13: (4). 321-340. [Full Text]
EUROCAT Working Group (1999). Prevalence of congenital anomalies in Europe 1995-6: Update to Report 7. EUROCAT Central Registry, Universitie Catholique Louvain.
Niyonsenge T and de Wals P (1999). A method for the follow-up of clusters of adverse reproductive outcomes. European Journal of Epidemiology. 15: (9). 833-837. [Full Text]
Quataert P, Armstrong B, Berghold A, Bianchi F, Kelly A, Marchi M, Martuzzi M and Rosano A (1999). Methodological problems and the role of statistics in cluster response studies: a framework. European Journal of Epidemiology. 15: (9). 821-831. [Full Text]
Dolk H, Vrijheid M, Armstrong B, Abramsky L, Bianchi F, Garne E, Nelen V, Robert-Gnansia E, Scott JES, Stone D and Tenconi R (1998). Risk of congenital anomalies near hazardous-waste landfill sites in Europe: The EUROHAZCON Study. The Lancet. 352: (9126). 423-427.
EUROCAT and ICBDMS (1998). World Atlas of Birth Defects. World Health Organisation.
Botto L, Khoury M, Mastroiacovo P, Castilla E, Moore CA, Skjaerven R, Mutchinick O, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens L, Lancaster P, Martinez-Frias M-L, Merlob P, Ruusinen A, Stoll C and Sumiyoshi Y (1997). The spectrum of congenital anomalies of the VATER Association: an international study. American Journal of Medical Genetics Part A. 71: (1). 8-15. [Full Text]
Calzolari E, Bianchi F, Dolk H, Stone D, Milan M and EUROCAT Working Group (1997). Are omphalocele and neural tube defects related congenital anomalies? Data from 21 registries in Europe (EUROCAT). American Journal of Medical Genetics Part A. 72: (1). 79-84. [Full Text]
Cordier S, Bergeret A, Goujard J, Ha M-C, Ayme S, Bianchi F, Calzolari E, de Walle H and OECM Working Group (1997). Congenital malformations and maternal occupational exposure to glycol ethers. Epidemiology. 8: (4). 355-363. [Full Text]
EUROCAT (1997). EUROCAT Report 7: 15 years of surveillance of congenital anomalies in Europe 1980-1994. Addendum: Tables and Figures. EUROCAT Central Registry, Universitie Catholique Louvain. 1-252.
EUROCAT (1997). EUROCAT Report 7: Prevalence of congenital anomalies in Europe 1995-6: Update. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1997). EUROCAT Report 7 Update: 17 years of surveillance of congenital anomalies in Europe. Addendum: Tables and Figures for 1995-1996. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1997). EUROCAT Report 7: 15 years of surveillance of congenital anomalies in Europe 1980-1994. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1997). EUROCAT Technical Report: Cluster assessment strategy for Europe. EUROCAT Central Registry, Universitie Catholique Louvain. 1-94.
EUROCAT (1997). EUROCAT Technical Report: Long term strategy for the prevention of birth defects in Europe. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1997). Report of the EUROCAT Workgroup on Statistics: Final report. EUROCAT Central Registry, Universitie Catholique Louvain. 1-21.
Paavola P, Salonen R, Barnicoat A, Winter R, Boyd P and Tenconi R (1997). Clinical and genetic heterogeneity in Meckel syndrome. Human Genetics. 101: (1). 88-92. [Full Text]
Boyd P, Anthony MY, Manning N, Lara-Rodriguez C, Wellesley D and Chamberlain P (1996). Antenatal diagnosis of cystic hygroma/nuchal pad: Report of 92 cases with follow-up of survivors. Archives of Disease in Childhood - Fetal and Neonatal Edition. 74: F38-F42.
EUROCAT (1996). Public health and prevention of congenital anomalies. 5th European Symposium on the Prevention of Congenital Anomalies. University of Groningen. 1-195.
Stoll C, Calzolari E, Cornel M, Garcia-Minaur S, Garne E and Nevin N (1996). A study on limb reduction defects in six European regions. Annals de Genetique. 39: 99-104.
Calzolari E, Bianchi F, Dolk H, Milan M and EUROCAT Working Group (1995). Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. American Journal of Medical Genetics Part A. 58: 187-194.
EUROCAT (1995). Abstracts of the 4th European Symposium on the Prevention of Congenital Anomalies. European Journal of Epidemiology. 11: (1, 3). S1-S7.
EUROCAT (1995). Report on methodological workshop. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1995). Newsletter: October. EUROCAT Central Registry, Universitie Catholique Louvain. 9: (3).
EUROCAT (1995). EUROCAT Report 6: Surveillance of Congenital Anmalies 1980-1992, Part 1 - Text and Part 2 - Tables. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT Working Group (1995). Surveillance of congenital anomalies 1980-1992. In: "EUROCAT Report 6, Part 1: Text and Part 2: Tables". EUROCAT Central Registry, Universitie Catholique Louvain.
Pexieder T, Bloch D and EUROCAT Working Party on Congenital Heart Disease (1995). Chapter 72. EUROCAT subproject on epidemiology of congenital heart disease: first analysis of the completed study. In: "Developmental Mechanisms of Heart Disease". Futura Publishing Co Inc. 655-668.
Stoll C and EUROCAT Working Group (1995). Distribution of single organ malformations in European populations. Annals de Genetique. 38: (1). 32-43.
Stoll C, Calzolari E, Cornel M, Garcia-Minaur S, Garne E and Nevin N (1995). A European collaborative study on the epidemiology of limb reduction defects. European Journal of Epidemiology. 11: S4
Stoll C, Calzolari E, Cornel M, Garcia-Minaur S, Garne E and Nevin N (1995). Genetics and epidemiology of limb reduction defects in 6 European countries. American Journal of Human Genetics. 57: A319
Cornel M and EUROCAT Working Group (1994). Variation in prenatal cytogenetic diagnosis: policies in 13 European countries 1989-1991. Prenatal Diagnosis. 14: 337-344.
EUROCAT (1994). Report of Activities, 1 August 1993 - 31 July 1994. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1994). Abstracts of the 3rd European Symposium on the Prevention of Congenital Anomalies. European Journal of Epidemiology. 9: (1). 100-118.
Lechat M (1994). European Registration of Congenital Anomalies (EUROCAT). In: "Epidemiology". IOS Press. 57-72.
Stone D and Dolk H (1994). High reported prevalence of congenital anomalies in a Scottish city. Scottish Medical Journal. 39: 170-172.
Weatherall J, Leurquin P, Elmer C, Gillerot Y and EUROCAT Working Group (1994). Report on EUROCAT 9th revision coding exercise. EUROCAT Central Registry, Universitie Catholique Louvain.
Depaepe A, Dolk H, Lechat M and EUROCAT Working Group (1993). The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe. Archives of Disease in Childhood. 68: (6). 743-748. [Full Text]
Dolk H and Lechat M (1993). Health surveillance in Europe: lessons from EUROCAT and Chernobyl. International Journal of Epidemiology. 22: (3). 363-368. [Full Text]
EUROCAT (1993). Abstracts of the 3rd European Symposium on the prevention of congenital anomalies. European Journal of Epidemiology. 9: (1). 100-118.
EUROCAT (1993). Newsletter. EUROCAT Central Registry, Universitie Catholique Louvain. 7:
EUROCAT (1993). EUROCAT Report 5: Surveillance of Congenital Anomalies 1980-1990. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT Working Group (1993). Surveillance of congenital anomalies 1980-1990. In: "EUROCAT Report 5". EUROCAT Central Registry, Universitie Catholique Louvain.
Lechat M and Dolk H (1993). Registries of Congenital Anomalies: EUROCAT. Environmental Health Perspectives. 101: (S2). 153-157.
Dolk H and de Wals P (1992). Chapter 7: Congenital anomalies. In: "Geographical and Environmental Epidemiology: Methods for Small Area Studies". Oxford Unviersity Press. 72-88.
Dolk H, Bertrand F, Lechat M and EUROCAT Working Group (1992). Chorionic villus sampling and limb abnormalities. The Lancet. 339: 876-877.
EUROCAT (1992). EUROCAT Registry Leaders of participating Centres 1992. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1992). Newsletter. EUROCAT Central Registry, Universitie Catholique Louvain. 6: (4).
Kallen B, Castilla E, Lancaster P, Mutchinick O, Knudsen L, Martinez-Frias M-L, Mastroiacovo P and Robert-Gnansia E (1992). The cyclops and the mermaid: an epidemiological study for two types of rare malformations. Journal of Medical Genetics. 29: (1). 30-35. [Full Text]
Kallen B, Castilla E, Robert-Gnansia E, Lancaster P, Kringelbach M, Mutchinick O, Martinez-Frias M-L and Mastroiacovo P (1992). An international case-control study on hypospadias. The problem with variability and the beauty of diversity. European Journal of Epidemiology. 8: 256-263.
Kallen B, Martinez-Frias M-L, Castilla E, Robert-Gnansia E, Lancaster P, Kringelbach M, Mutchinick O and Mastroiacovo P (1992). Hormone therapy during pregnancy and isolated hypospadias: an international case-control study. International Journal of Risk and Safety in Medicine. 3: 183-198.
Lechat M (1992). The Concerted Action of the EEC for the Epidemiological Surveillance of Congenital Anomalies (EUROCAT). European Journal of Obstetrics & Gynecology and Reproductive Biology. 44: 1-20.
de Wals P, Bloch D, Calabro A, Calzolari E, Cornel M, Johnson Z, Ligutic I, Nevin N, Pexieder T, Stoll C, Tenconi R and Tilmont P (1991). Association Between Holoprosencephaly and Exposure to Topical Retinoids: Results of the EUROCAT Survey. Paediatric & Perinatal Epidemiology. 5: 445-447.
Dolk H (1991). When in Microcephaly an 'Informative Morphgenetic Variant'?. Paediatric & Perinatal Epidemiology. 5: (4). A10
Dolk H (1991). The Predictive Value of Microcephaly During the First Year of Life for Mental Retardation at Seven Years. Developmental Medicine & Child Neurology. 33: 974-983.
Dolk H (1991). Methylene Blue and Atresia or Stenosis of Ileum and Jejunum. The Lancet. 338: 1021-1022.
Dolk H (1991). Surveillance Épidémiologique des Anomalies du Systèm Nerveux dans la Mise en Évidence de Tératogènes, In: Bulletin et Mémoires de l'Académie Royale de Médecin de Belgique. EUROCAT Central Registry, Universitie Catholique Louvain.
Dolk H and Bertrand F (1991). Validation of Data: The Experience of EUROCAT, an International Registration System, In: Alexander S, Grandjean H, Masuy-Stroobant G, Leleux P, Puech F, Ribourdouille M, Bases de Données Périnatales et Assurance de Qualité. Louvain la Neuve, Academia.
Dolk H and EUROCAT Working Group (1991). Prevalence of Neural Tube Defects in 20 Regions of Europe and Impact on Prenatal Diagnosis, 1980-1986. Ob/Gyn Digest. 7: 4-5.
Dolk H and Lechat M (1991). The Multifactorial Threshold Model, Neural Tube Defects, and Sex Ratios. American Journal of Epidemiology. 134: (7). 748-749. [Full Text]
Dolk H, de Wals P, Gillerot Y, Lechat M, Ayme S, Cornel M, Cuschieri A, Garne E, Goujard J, Laurence K, Lillis D, Lys F, Nevin N, Owens J, Radic A, Stoll C, Stone D and Ten Kate L (1991). Heterogeneity of Neural Tube Defects in Europe: The Significance of Site of Defect and Presence of Other Major Anomalies in Relation to Geographic Differences in Prevalence. Teratology. 44: (5). 547-559. [Full Text]
Dolk H, de Wals P, Lechat M, Ayme S, Beckers R, Bianchi F, Borlee I, Calabro A, Calzolari E, Cuschieri A, Galanti C, Garne E, Goujard J, Hansen-Koenig D, Harris F, Laurence K, Ligutic I, Lillis D, Lungarotti M, Lys F, Marchi M, Nevin N, Radic A, Stoll C, Stone D, Svel I, Tenconi R and Ten Kate L (1991). Prevalence of Neural Tube Defects in 20 Regions of Europe and the Impact of Prenatal Diagnosis, 1980-1986. Journal of Epidemiology & Community Health. 45: (1). 52-58. [Full Text]
Dolk H, Goyens S and Lechat M (1991). Description of EUROCAT Registries, 1979-1990. Commission of the European Community. Medical Research. XII/780/82-EN, Brussels, Belgium. EUR13615EN:
EUROCAT (1991). Abstracts of the 2nd European Symposium on the Prevention of Congenital Anomalies. European Journal of Epidemiology. 7: (6). 715-736.
EUROCAT (1991). EUROCAT Report 4: Surveillance of Congenital Anomalies 1980-1988. EUROCAT Central Registry, Universitie Catholique Louvain.
Kallen B, Castilla E, Kringelbach M, Lancaster P, Martinez-Frias M-L, Mastroiacovo P, Mutchinick O and Robert-Gnansia E (1991). Parental Fertility and Infant Hypospadias: An International Case-Control Study. Teratology. 44: 629-634. [Full Text]
Kallen B, Mastroiacovo P, Lancaster P, Mutchinick O, Kringelbach M, Martinez-Frias M-L, Robert-Gnansia E and Castilla E (1991). Oral contraceptives in the etiology of isolated hypospadias. Contraception. 44: 173-182.
Lancaster P, Kucera J, Knudsen L, Botting B, Robert-Gnansia E, Goujard J, Elek C, Mastroiacovo P, Cocchi G, Borman B, Irgens L, Castilla E, Martinez-Frias M-L and Ericson A (1991). Conjoined twins an epidemiological study based on 312 cases. Acta Geneticae Medicae et Gemellologiae. 40: 325-335.
Lechat M (1991). A New Europe: Needs for and Roles of Epidemiological Research and Services, In: Utviklingsmuligheter for Epidemiologisk Forskning. Bergen. Alam Mater Forlag.
Lechat M and Dolk H (1991). Registries of Congenital Anomalies; The EUROCAT Experience: A Concerted Action of the EC. International Workshop Impact of the Environment in Reproductive Health. 33
Robert-Gnansia E and Martinez-Frias M-L (1991). What does it mean to be a member of the Clearinghouse?. International Journal of Risk and Safety in Medicine. 2: 249-254.
de Wals P (1990). Évaluation de l'impact de l'accident de Tchernobyl sur la santé des Populations en Europe de l'Ouest. Revue International de Pediatrie. 199: 25-29.
de Wals P and Dolk H (1990). Effects of the Chernobyl Radiological Contamination on Human Reproduction in Western Europe, In: Mutation and the Environment. Part C: Somatic and Heritable Mutation, Adduction and Epidemiology. Wiley-Liss Inc.
de Wals P, Bloch D, Calabro A, Calzolari E, Cornel M, Johnson Z, Ligutic I, Nevin N, Pexieder T, Stoll C, Tenconi R and Tilmont P (1990). Absence of Association Between Holoprosencephaly and Exposure to Topical Retinoids: Results of the EUROCAT Survey - Report to the Commission of the EEC. EUROCAT Central Registry, Universitie Catholique Louvain.
Dolk H, de Wals P, Gillerot Y, Lechat M, Ayme S, Beckers R, Bianchi F, Borlee I, Calabro A, Calzolari E, Cuschieri A, Galanti C, Goujard J, Hansen-Koenig D, Harris F, Karkut G, Lillis D, Lungarotti M, Lys F, Marchi M, Nevin N, Radic A, Stoll C, Stone D, Svel I, Ten Kate L and Zori R (1990). The Prevalence at Birth of Down Syndrome in 19 Regions of Europe 1980-86, In: Key Issues in Mental Retardation Research. London and New York, Toutledge.
EUROCAT (1990). EUROCAT Guide 1.1: Instructions for the Registration of Congenital Anomalies. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1990). EUROCAT Guide 5: Classification and Coding of Congenital Anomalies. EUROCAT Central Registry, Universitie Catholique Louvain.
Cordier S, Goujard J and de Wals P (1989). EUROCAT Guide 4: Collaborative Study of Environment and Pregnancy. Guidelines for Participants. EUROCAT Central Registry, Universitie Catholique Louvain.
de la Mata I, de Wals P, Dolk H, Lechat M, Beckers R, Borlee I, Lys F, Zori R, Goujard J, Stoll C, Ayme S, Hansen-Koenig D, Karkut G, Galanti C, Marchi M, Bianchi F, Calabro A, Lungarotti M, Calzolari E, Radic A, Lillis D, Stone D, Harris F, Nevin N, Ten Kate L, Svel I, Ligutic I and Cuschieri A (1989). Incidence of Congenital Rubella Syndrome in 19 Regions of Europe in 1980-1986. European Journal of Epidemiology. 5: (1). 106-109.
Dolk H and de Wals P (1989). The Effects of In-Utero Exposure to Radiation Following the Chernobyl Accident: Analysis of EUROCAT Data on Central Nervous System Malformations. Arhiv Zast Majke & Djeteta. 33: 183-191.
Dolk H, de Wals P and Lechat M (1989). Dose Information Needed to Assess Effect of Exposure to Radiation in Utero. British Medical Journal. 298: 1710 [Full Text]
EUROCAT (1989). EUROCAT Report 3: Surveillance of Congenital Anomalies 1980-1986. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT and ICBDMS (1989). Abstracts of the Scientific Symposium on Birth Defects Monitoring Programmes and Registries: Their Uses for Epidemiologic Research. European Journal of Epidemiology. 5: (2). 251-262.
Kallen B, Robert-Gnansia E, Mastroiacovo P, Martinez-Frias M-L, Castilla E and Cocchi G (1989). Anticonvulsant drugs and malformations is there a drug specificity?. European Journal of Epidemiology. 5: 31-36.
Lys F, de Wals P, Borlee I, Billiet A, Vincotte-Mols M and Levi S (1989). Evaluation of Routine Ultrasound Examination for the Prenatal Diagnosis of Malformation. European Journal of Obstetrics & Gynecology and Reproductive Biology. 30: 101-109.
Stoll C, Mastroiacovo P, Weatherall J and Lechat M (1989). EUROCAT Guide 3. For the Description and Classification of Congenital Limb Defects. EUROCAT Central Registry, Universitie Catholique Louvain.
de la Mata I and de Wals P (1988). Policies for Immunization Against Rubella in European Countries. European Journal of Epidemiology. 4: (2). 175-180.
de Wals P (1988). Frequentïe van de Congenitale Afwijkingen na Tchernobyl. Epidemiologisch Bulletin van de Gezondheidinspectie der Vlaamse Gemeenschap. 3: 7-8.
de Wals P and Lechat M (1988). Congenital Rubella, In: Silman A, Allwright S, Elimination or Reduction of Diseases? Opportunities for Health Service Action in Europe. Oxford Unviersity Press.
de Wals P, Bertrand F, de la Mata I and Lechat M (1988). Evaluation of the Genetic Impact of the Chernobyl Accident: Analysis of the Frequency of Chromosomal Anomalies in 19 EUROCAT Registries from January 1st 1986 to March 31st 1987. Acta Pædiatrica Latina. 41: (3). 846-854.
de Wals P, Bertrand F, de la Mata I and Lechat M (1988). Frequency of Chromosomal Anomalies in 19 Regions of Europe Following the Chernobyl Accident. XI European Congress of Perinatal Medicine, Rome, Italy, Cic Edizioni Internazionali.
de Wals P, Bertrand F, de la Mata I and Lechat M (1988). Chromosomal Anomalies and Chernobyl. International Journal of Epidemiology. 17: (1). 230-231. [Full Text]
de Wals P, Dolk H, Bertrand F, Gillerot Y, Weatherall J and Lechat M (1988). La Surveillance Épidémiologique des Anomalies Congénitales par la Registre EUROCAT. Revue Epidemiologique Sante Publique. 36: 273-282.
de Wals P, Dolk H, Bertrand F, Gillerot Y, Weatherall J, Lechat M and EUROCAT Working Group (1988). Epidemiologic Surveillance of Congenital Anomallies: The EUROCAT Project. Acta Pædiatrica Latina. 41: (3). 641-658.
EUROCAT (1988). Preliminary Evaluation of the Impact of the Chernobyl Radiological Contamination on the Frequency of Central Nervous System Malformations in 18 Regions of Europe. Paediatric & Perinatal Epidemiology. 2: 253-264.
ICBDMS and EUROCAT (1988). Birth Defects Monitoring Programmes and Registries: Their Uses for Epidemiologic Research - Programme and Abstracts. ICBDMS-EUROCAT Symposium.
Martinez-Frias M-L and Salvador J (1988). Megadose vitamin A and terotogenicity. The Lancet. 331: 236
Martinez-Frias M-L, Harranz I, Salvador J, Prieto D, Ramos MA, Rodriguez EP and Cordero JF (1988). Prevalence of dominant mutations in Spain: Effect of changes in maternal age distribution. American Journal of Medical Genetics Part A. 31: 845-852.
Martinez-Frias M-L, Ramos MA and Salvador J (1988). Thanatophoric dysplasia: An autosomal dominant condition?. American Journal of Medical Genetics Part A. 31: 815-820.
Ten Kate L, Dolk H, Cornel M, de Wals P, Te Meerman G, Lechat M and Weatherall J (1988). Frequency of Births with Potentially Avoidable Serious Chromosomal Anomalies in EEC Countries 1979-1982. Journal of Epidemiology & Community Health. 42: (3). 266-270. [Full Text]
Weatherall J (1988). Surveillance of Congenital Malformations and Birth Defects, In: Eylenbosch W, Noah N, Surveillance in Health and Disease. Oxford Unviersity Press.
de Wals P and Lechat M (1987). Surveillance of Congenital Anomalies. Years 1980-1984, In: EUROCAT Report 2. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1987). EUROCAT Report 2: Surveillance of Congenital Anomalies Years 1980-1984. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT Working Group (1987). Prevalence of Neural Tube Defects in 16 Regions of Europe, 1980-1983. International Journal of Epidemiology. 16: (2). 246-251. [Full Text]
Lancaster P, Knudsen L, Goujard J, Robert-Gnansia E, Mastroiacovo P, Mutchinick O, Irgens L, Erickson E and Martinez-Frias M-L (1987). Epidemiology of Bladder Exstrophy and Epispadias: A Communication from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology. 36: (2). 221-227. [Full Text]
Pexieder T, de Wals P, Bein G, Bosi G, Stoll C, Gallez A, Houston A, Vliers A and Wilkinson J (1987). Preliminary Results of the Sub-Project for the Registration and Follow-Up of Congenital Heart Diseases, In: EUROCAT Report 2. EUROCAT Central Registry, Universitie Catholique Louvain.
Radic A, Dolk H and de Wals P (1987). Declining Rate of Neural Tube Defects in Three Eastern Counties of Ireland: 1979-1984. Irish Medical Journal. 80: (8). 226-228.
Castilla E, Czeizel AE, Kallen B, Mastroiacovo P, Oakley G, Takeshita K, de Wals P and Kuliev A (1986). Methodology for Birth Defects Monitoring. Birth Defects Original Article Series. 22: 1-43.
Dolk H, de Wals P and Hamilton F (1986). Investigation of an Apparent High Rate of Microcephaly in Glasgow and Implications for Epidemiologic Surveillance, In: EUROCAT Report 1. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1986). Abstracts of the 1st European Symposium on the Prevention of Congenital Anomalies. European Journal of Epidemiology. 2: (4). 320-336.
EUROCAT (1986). Report 1: Surveillance of Congenital Anomalies 1980-1983. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1986). EUROCAT Guide 3: For the Description and Classification of Congenital Limb Defects. EUROCAT Central Registry, Universitie Catholique Louvain.
Kallen B, Bertollini E, Castilla E, Czeizel AE, Knudsen L, Martinez-Frias M-L, Mastroiacovo P and Mutchinick O (1986). A Joint International Study on the Epidemiology of Hypospadias. Acta Pædiatric Scandanavian. 324: 1-52.
Martinez-Frias M-L, Parralo JA, Salvador J and Frias JL (1986). Sex Ratios in Neural Tube Defects. The Lancet. 2: 871
Pexieder T, de Wals P and Bein G (1986). EUROCAT Guide 2. For the Registration and Follow-Up of Congenital Heart Disease. EUROCAT Working Group on CHD. EUROCAT Central Registry, Universitie Catholique Louvain.
Borlee I, de Wals P and Vincotte-Mols M (1985). Problems in the Ascertainment of Congenital Heart Diseases. Review of 308 Cases Registered in Hainaut from 1979 to 1982, In: Registration of Congenital Anomalies in EUROCAT Centres, 1979-1983. Louvain-la-Neuve, Cabay.
de Wals P and Dolk H (1985). Prevalence of Congenital Anomalies in 19 EUROCAT Centres, 1979-1982. Registration of Congenital Anomalies in EUROCAT Centres 1979-1983. Louvain-la-Neuve, Cabay.
de Wals P, Weatherall J and Lechat M (1985). Registration of Congenital Anomalies in EUROCAT Centres 1979-1983. Louvain-la-Neuve, Cabay.
Lechat M and de Wals P (1985). European Economic Community's Concerted Action on Congenital Anomalies: The EUROCAT Project. Progress in Clinical & Biologicial Research. 163B: 11-15.
Lechat M, de Wals P and Weatherall J (1985). European Economic Community's Concerted Action on Congenital Anomalies: The EUROCAT Project, In: Prevention of Physical and Mental Congenital Defects, Part B: Epidemiology, Early Detection and Therapy, and Environmental Factors. Alan R Liss Inc.
Weatherall J (1985). The Beginnings of EUROCAT. Louvain-la-Neuve, Cabay. [Full Text]
de Wals P, Mastroiacovo P, Weatherall J and Lechat M (1984). EUROCAT Guide 1. For the Registration of Congenital Anomalies. EUROCAT Central Registry, Universitie Catholique Louvain. [Full Text]
Lechat M and de Wals P (1984). EUROCAT Report No 10: Registration of Congenital Abnormalities and Multiple Births 1979, 1980, 1981 and 1982 and Cumulative 1979-1982. EUROCAT Central Registry, Universitie Catholique Louvain.
Martinez-Frias M-L, Salvador J, Prieto D and Zaplana J (1984). Epidemiological Study of Gastroschisis and Omphalocele in Spain. Teratology. 29: 377-382. [Full Text]
Weatherall J, de Wals P and Lechat M (1984). Evaluation of Information Systems for the Surveillance of Congenital Malformations. International Journal of Epidemiology. 13: (2). 193-196. [Full Text]
Chen R, McDowall M, Terzian E and Weatherall J (1983). EUROCAT Guide to Monitoring Methods for Malformation Registers - Report for the Commission of the European Communities. EUROCAT Central Registry, Universitie Catholique Louvain.
EUROCAT (1983). Concerted Action on Registration of Congenital Abnormalities, 1978-1981. Executive Report on Pilot Years. EUROCAT Central Registry, Universitie Catholique Louvain.
Nevin N and Weatherall J (1983). Illustrated Guide to Malformations of the Central Nervous System at Birth. Churchill Livingstone.
Weatherall J (1983). EUROCAT Report: Registration of Congenital Abnormalities and Multiple Births January to December 1982. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J (1983). EUROCAT Report: Registration of Congenital Abnormalities and Multiple Births January to June 1982. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J (1983). EUROCAT Report: Registration of Congenital Abnormalities and Multiple Births Years 1979, 1980 and 1981. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J (1983). EUROCAT Report No 8: Registration of Congenital Abnormalities and Multiple Births, 1 January - 30 June 1982. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J (1983). EUROCAT Report: Registration of Congenital Abnormalities and Multiple Births January to December 1980. EUROCAT Central Registry, Universitie Catholique Louvain.
de Kettenis Y and de Wals P (1982). Computer System for Analysis of Data Transmitted to the EUROCAT Central Register, In: Working papers of EEC Concerted Action Project. EUROCAT, Pilot Period 1978-1981. Commission of the European Community. Medical Research. XII/780/82-EN, Brussels, Belgium.
de Wals P (1982). EUROCAT Study: Definition of Study Population and Evaluation of Effectiveness of Registration. Years 1979-1980, In: Working Papers of the EEC Concerted Action Project. EUROCAT, Pilot Period 1978-1981. Commission of the European Community. Medical Research. XII/780/82-EN, Brussels, Belgium.
EUROCAT (1982). Working Papers of EEC Concerted Action Project. Pilot Period 1978-1981. EUROCAT Central Registry, Universitie Catholique Louvain.
Martinez-Frias M-L, Salvador J and Prieto D (1982). Spanish Toxic Oil and Congenital Malformations. The Lancet. 2: 1349
Emery J and Weatherall J (1981). EUROCAT Guide to a Service in Fetal and Perinatal Pathology - Part 1: Establishing a Service. EUROCAT Central Registry, Universitie Catholique Louvain.
Lortie-Monette F, Kucera J, Weatherall J, Knudsen L, Guiband P, Czeizel AE, Klingberg MA, Mastroiacovo P, Ashizawa M, Mutchinick O, Foster F, Nevin N, Bjerkedal T, Castilla E, Martinez-Frias M-L, Kallen B, Oakley G, Stickle G and Hay S (1981). A Communication from the International Clearinghouse for Birth Defects Monitoring Systems. International Journal of Epidemiology. 10: (3). 245-246. [Full Text]
Weatherall J (1981). EUROCAT Report: Registration of Congenital Abnormalities and Multiple Births January to December 1980. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J (1981). EUROCAT Report: Registration of Congenital Abnormalities and Multiple Births January to December 1979. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J and de Wals P (1980). EUROCAT Guidelines for Registration of Congenital Abnormalities and Multiple Births. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J, Vlietinck R and Van Den Berghe H (1980). EUROCAT Guide to the Confirmation of Zygosity Diagnosis of Multiple Births. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J (1979). EUROCAT Guide to Eponyms and Syndromes. For Use with BPA Classification of Diseases Paediatric Supplement to ICD9. EUROCAT Central Registry, Universitie Catholique Louvain. [Full Text]
Weatherall J and Derom R (1979). EUROCAT Guide to the Diagnosis of Zygosity at Multiple Births. EUROCAT Central Registry, Universitie Catholique Louvain.
Weatherall J, Vlietinck R and Van Den Berghe H (1979). EEC Concerted Action Project - European Congenital Anomalies and Twins (EUROCAT). Acta Geneticae Medicae et Gemellologiae. 28: 377-379.
Single Registry Publications
Stocker LJ, Wellesley D, Stanton MP, Parasuraman R and Howe DT (2015). The increasing incidence of foetal echogenic congenital lung malformations: an observational study. Prenatal Diagnosis. 35: 148-153. [Full Text]
Baardman ME, du Marchie Sarvaas GJ, de Walle H, Fleurke-Rozema H, Snijders R, Ebels T, Bergman JEH, Bilardo CM, Berger RMF and Bakker M (2014). Impact of introduction of 20-week ultrasound scan on prevalence and fetal and neonatal outcomes in cases of selected severe congenital heart defects in The Netherlands. Ultrasound in Obstetrics and Gynecology. 44: 58-63. [Full Text]
Bakker M and de Jonge, L (2014). Sources of Information on Medication Use in Pregnancy. A report created within WP9 of the EUROCAT Joint Action. [Full text]
Bestwick JP, Huttly WJ, Morris J and Wald NJ (2014). Prevention of neural tube defects: a cross-sectional study of the uptake of folic acid supplementation in nearly half a million women. PLoS ONE. 9: (2). e89354 [Full Text]
Daud A, Bergman JEH, Bakker M, Wang, H, de Walle H, Plosch T and Wilffert B (2014). Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins. Pharmacogenomics. 15: (7). 1029-1041. [Abstract]
Majeed-Saidan MA, Ammari AN, AlHashem AM, Al Rakaf MS, Shoukri MM, Garne E and Kurdi AM (2014). Effect of consanguinity on birth defects in Saudi women: results from a nested case-control study. Birth Defects Research (Part A). [Full Text]
Seravalli V, Pierini A, Bianchi F, Giglio S, Vellucci F and Cariati E (2014). Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549,931 births in Tuscany. Journal of Maternal-Fetal and Neonatal Medicine. [Abstract]
Smedts HPM, de Jonge, L, Bandola SJG, Baardman ME, Bakker M, Stricker B and Steegers-Theunissen RP (2014). Early pregnancy exposure to antihistamines and risk of congenital heart defects: results of two case-control studies. European Journal of Epidemiology. [Full Text] (in press)
Ward M, Huton J, McDonnell R, Bachir N, Scallan E, O'Leary M, Hoey J, Doyle A, Delany V and Sayers G (2014). Folic acid supplements to prevent neural tube defects: trends in East of Ireland 1996-2002. Irish Medical Journal. 107: (3). [Full Text]
de Jonge, L, Zetstra-van der Woude PA, Bos, HJ, de Jong-van den Berg L and Bakker M (2013). Identifying associations between maternal medication use and birth defects using a case-population approach: an exploratory study on signal detection. Drug Safety. 36: (11). 1069-1078. [Abstract]
de Smit (2013). Appraisal of strategies monitor (population) folate status with respect to the prevention and scientific study of congenital anomalies. A MediClara Report created within WP7 of the EUROCAT Joint Action - Primary Prevention of Congenital Anomalies. [Full text]
Olsen MS, Garne E, Svaerke C, Sondergaard L, Nissen H, Andersen HO, Hjortdal V, Johnsen SP and Videbaek J (2013). Cancer risk among patients with congenital heart defects: a nationwide follow-up study. Cardiology in the Young. 1-7. [Full Text]
Pauniaho S-L, Heikinheimo O, Vettenrata K, Salonen J, Stefanovic V, Ritvanen A, Rintala R and Heikinheimo M (2013). High prevalence of sacrococcygeal teratoma in Finland - a nationwide population-based study. Acta Paediatrica. 102: (6). e251-e256. [Full Text]
Tararbit K, Bui TTT, Lelong N, Thieulin A-C, Goffinet F and Khoshnood B (2013). Clinical and socioeconomic predictors of pregnancy termination for fetuses with congenital heart defects: a population-based evaluation. Prenatal Diagnosis. 33: 179-186. [Full Text]
Tararbit K, Lelong N, Thieulin A-C, Houyel L, Bonnet D, Goffinet F, Khoshnood B and EPICARD Study Group, (2013). The risk for four specific congenital heart defects associated with assisted reproductive techniques: a population-based evaluation. Human Reproduction. 28: (2). 367-374. [Full Text]
Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F and Ensini M (2013). The current situation and needs of rare disease registries in Europe. Public Health Genomics. 16: (6). 288-298. [Abstract]
van Gelder MMHJ, van Rooij IALM, de Walle H, Roeleveld N and Bakker M (2013). Maternal recall of prescription medication use during pregnancy using a paper-based questionnaire. Drug Safety. 36: 43-54. [Abstract]
Vasluian E, van der Sluis CK, van Essan A, Bergman JEH, Dijkstra PU, Reinders-Messelink HA and de Walle H (2013). Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study. BMC Musculoskeletal Disorders. 14: 323 [Full Text]
Vasluian E, van der Sluis CK, van Essan A, Bergman JEH, Dijkstra PU, Reinders-Messelink HA and de Walle H (2013). Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study. BMC Musculoskeletal Disorders. 14: 323 [Full Text]
Alberman E, Mutton D and Morris J (2012). Cytological and epidemiological findings in trisomies 13, 18 and 21: England and Wales 2004 - 2009. American Journal of Medical Genetics Part A. 158A: 1145-1150. [Full Text]
Baardman ME, Kerstjens-Frederikse WS, Corpeleijn E, de Walle H, Hofstra R, Berger RMF and Bakker M (2012). Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?. Heart. 98: 474-479. [Full Text]
Bartfai Z, Bartfai L, Nedeczky I, Puho EH, Banhidy F and Czeizel AE (2012). Rate of preterm birth in pregnant women with vitamin E treatment: a population-based study. Journal of Maternal-Fetal and Neonatal Medicine. 25: (6). 575-580. [Abstract]
Bell R, Glinianaia SV, Tennant P, Bilous RW and Rankin J (2012). Peri-conception hyperglycaemia and nephropathy are associated with risk of congenital anomaly in women with pre-existing diabetes: a population-based cohort study. Diabetologia. 55: 936-947. [Full Text]
Best KE, Glinianaia SV, Bythell M and Rankin J (2012). Hirschsprung's disease in the North of England: prevalence, associated anomalies and survival. Birth Defects Research (Part A). 94: 477-480. [Full Text]
DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai A, Hilhorst-Hofstee Y, Ruivenkamp C, van Esch H, Addor M-C and et al (2012). Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenic characterization. American Journal of Medical Genetics Part A. 158A: 2152-2161. [Full Text]
Garne E, Olsen MS, Johnsen SP, Hjortdal V, Andersen HO, Nissen H, Sondergaard L, Videbaek J and Danish Register of Congenital Heart Disease, (2012). How do we define congenital heart defects for scientific studies?. Congenital Heart Diseases. 7: (1). 46-49. [Abstract]
Hjortebjerg D, Andersen A, Garne E, Raaschou-Nielsen O and Sorensen M (2012). Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies: a cohort study. Environmental Health. 11: (54). [Full Text]
Jaurejuiberry G, de la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres M-L, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Sparta G, Bartholdi D, Rauch A, Addor M-C and et al (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology. 122: 1-6. [Full Text]
Khoshnood B, Lelong N, Houyel L, Thieulin A-C, Jouannic J-M, Magnier S, Delezoide A-L, Magny J-F, Rambaud C, Bonnet D, Goffinet F and EPICARD Study Group, (2012). Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study. Heart. 98: (22). 1667-1673. [Full Text]
Laas E, Lelong N, Thieulin A-C, Houyel L, Bonnet D, Ancel P-Y, Kayem G, Goffinet F, Khoshnood B and EPICARD Study Group, (2012). Preterm birth and congenital heart defects: a population-based study. Pediatrics. 130: (4). 829-837. [Abstract]
Lelong N, Thieulin A-C, Vodovar V, Goffinet F and Khoshnood B (2012). Epidemiological surveillance and prenatal diagnosis of congenital anomalies in the Parisian population, 1981-2007. Archives de Pediatrie. 19: (10). 1030-1038. [Abstract]
Morris J, Alberman E, Mutton D and Jacobs P (2012). Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. American Journal of Medical Genetics Part A. 158A: 1151-1157. [Full Text]
Prathapan S, Adams J, Bythell M and Rankin J (2012). Are there socio-economic inequalities in the uptake of Down syndrome screening in the UK?. Prenatal Diagnosis. 32: 293-295. [Full Text]
Rankin J, Tennant P, Bythell M and Pearce MS (2012). Predictors of survival in children born with Down syndrome: a Registry-based study. Pediatrics. 129: e1373-e1381. [Abstract]
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor M-C and et al (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics. 90: 494-501. [Full Text]
Zetstra-van der Woude PA, de Walle H and de Jong-van den Berg L (2012). Periconceptional folic acid use: still room to improve. Birth Defects Research Part A Clinical and Molecular Teratology. 94: 96-101. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2011). A possible association between maternal otitis media and ear defect in their children. American Journal of Otolaryngology. 32: (3). 203-209. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2011). Chronic hypertension with related drug treatment of pregnant women and congenital abnormalities in their offspring: a population-based study. Hypertension Research. 34: (2). 257-263. [Abstract]
Banhidy F, Acs N, Puho EH and Czeizel AE (2011). Iron deficiency anemia: pregnancy outcomes with or without iron supplementation. Nutrition. 27: (1). 65-72. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2011). Hypotension in pregnant women: a population-based case-control study of pregnancy complications and birth outcomes. Hypertension Research. 34: 55-61. [Abstract]
Banhidy F, Czeizel AE and Puho EH (2011). The efficacy of medical care of epileptic pregnant women based on the rate of congential abnormalities in their offspring. Congenital Anomalies. 51: (1). 34-42. [Full Text ]
Banhidy F, Czeizel AE, Dakhlaoui A and Puho EH (2011). Peptic ulcer with related drug treatments in pregnant women and congenital abnormalities in their offspring: a population-based study. Congenital Anomalies. 51: 26-33. [Full Text]
Banhidy F, Dakhlaoui A, Puho EH and Czeizel AE (2011). Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study. . Congenital Anomalies. 51: 80-86. [Full Text]
Banhidy F, Puho EH and Czeizel AE (2011). Possible association between hyperthyroidism in pregnant women and obstructive congenital abnormalities of urinary tract in their offspring - a population-based case-control study. Journal of Maternal-Fetal and Neonatal Medicine. 24: (2). 305-312. [Full Text]
Czeizel AE, Puho EH, Dakhlaoui A and Banhidy F (2011). Association between uterus uni/bicornis in pregnant women and postural deformities in their offspring. American Journal of Obstetrics and Gynecology. 205: (560). e1-e6. [Full Text]
Dadvand P, Rankin J, Rushton S and Pless-Mulloli T (2011). Ambient air pollution and congenital heart disease: a register-based study. Environmental Research. 111: 435-441.
Dadvand P, Rankin J, Rushton S and Pless-Mulloli T (2011). Association between maternal exposure to ambient air pollution and congenital heart disease: a register-based, spatiotemporal analysis. American Journal of Epidemiology. 173: 171-182.
Houyel L, Khoshnood B, Anderson RH, Lelong N, Thieulin A-C, Goffinet F, Bonnet D and EPICARD Study Group, (2011). Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code. Orphanet Journal of Rare Diseases. 6: 64 [Full Text]
Hwang C-S, Sukalo M, Batygin O, Addor M-C, Brunner H, Perez Aytes A, Mayerle J, Song H K, Varshavsky A and Zenker M (2011). Ubiquitin ligases of the n-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. PLoS ONE. 6: (9). e24925 [Full Text]
Irving C, Richmond S, Wren C, Longster C and Embleton N (2011). Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. Journal of Maternal-Fetal and Neonatal Medicine. 24: (1). 137-141.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernandez-Aranda F, Fernandez-Real JM, Gratacos M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Mannik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor M-C, Alembik Y, Antonarakis SE and et al (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: (7367). 97-102. [Full Text]
Jayachandran D, Bythell M, Ward Platt MP and Rankin J (2011). Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival. Journal of Urology. 186: (5). 2056-2061. [Abstract]
Jouannic J-M, Thieulin A-C, Bonnet D, Houyel L, Lelong N, Goffinet F and Khoshnood B (2011). Measurement of nuchal translucency for prenatal screening of congenital heart defects: a population-based evaluation. Prenatal Diagnosis. 31: 1264-1269. [Full Text]
Mangione R, Lelong N, Fontanges M, Amat S, Rosenblatt J, Khoshnood B and Jouannic J-M (2011). Visualization of intracranial translucency at the 11-13 week scan is improved after specific training. Ultrasound in Obstetrics and Gynecology. 38: 635-639. [Full Text]
Morgan M, de Jong-van den Berg L and Jordan S (2011). Drug safety in pregnancy - monitoring congenital anomalies. Journal of Nursing Management. 19: 305-310. [Full Text]
Sethna F, Tennant P, Rankin J and Robson S (2011). Prevalence, natural history and clinical outcome of mild to moderate ventriculomegaly. Obstetrics and Gynecology. 117: 867-876.
Tennant P, Samarasekera D, Pless-Mulloli T and Rankin J (2011). Sex differences in the occurrence of congenital anomalies. Birth Defects Research (Part A). 91: 894-901. [Full Text]
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JDH, de Walle H, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP and van Tintelen JP (2011). Desmin-related myopathy. Clinical Genetics. 80: 354-366. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2010). No association between severe constipation with related drug treatment in pregnant women and congenital abnormalities in their offspring: A population-based case-control study.. Congenital Anomalies. 50: (1). 15-20. [Full Text ]
Acs N, Banhidy F, Puho EH and Czeizel AE (2010). A possible association between acute infectious diarrhoea in pregnant women and congenital abnormalities in their offspring - a population-based case-control study. Scandinavian Journal of Infectious Diseases. 42: (5). 359-367. [Abstract]
Acs N, Banhidy F, Puho EH and Czeizel AE (2010). Birth outcomes and pregnancy complications of women with uterine leiomyoma - a population-based case-control study. Health. 6: 566-574. [Abstract]
Bakker M (2010). Increased risk of septal heart defects in newborns as a result of sertraline and citalopram intake during pregnancy. Evidence Based Mental Health. 13: 58 [Full Text]
Bakker M, de Walle H, Wilffert B and de Jong-van den Berg L (2010). Fluoxetine and infantile hypertrophic pylorus stenosis: a signal from a birth defects-drug exposure surveillance study. Pharmacoepidemiology and Drug Safety. 19: 808-813. [Full Text]
Bakker M, Kerstjens-Frederikse WS, Buys CHCM, de Walle H and de Jong-van den Berg L (2010). First-trimester use of paroxetine and congenital heart defects: a population-based case-control study. Birth Defects Research (Part A). 88: 94-100. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). Varicose veins of lower extremities in pregnant women and birth outcomes. Central European Journal of Public Health. 18: (3). 161-168. [Abstract]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). Association of very high Hungarian rate of preterm births with cervical incompetence in pregnant women. Central European Journal of Public Health. 18: (1). 8-15. [Abstract]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). A possible association of periodontal infectious diseases in pregnant women with isolated orofacial clefts in their children: a population-based case-control study. Birth Defects Research (Part A). 88: 466-473. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). Congenital abnormalities in the offspring of pregnant women with type 1, type 2 and gestational diabetes mellitus: a population-based case-control study. Congenital Anomalies. 50: 115-121. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). Teratogenic potential of pholedrine: a sympathomimetic vasoconstrictive drug - a population-based case-control study. Congenital Anomalies. 50: 122-128. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). The efficacy of antihypertensive treatment in pregnant women with chronic and gestational hypertension: a population-based study. Hypertension Research. 33: (5). 460-466. [Abstract]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). Birth outcomes among pregnant women with genital warts. International Journal of Gynecology and Obstetrics. 108: (2). 153-154.
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). Possible association of maternal haemorrhoid with congenital abnormalities in their children - a population-based case-control study. Balkan Journal of Medical Genetics. 13: (1). 23-33. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2010). A possible association between cervical erosion in pregnant women and congenital abnormalities in their children - a population-based case-control study. Health. 8: 945-950. [Abstract]
Bergman JEH, Blake K, Bakker M, du Marchie Sarvaas GJ, Free RH and van Ravenswaaij-Arts CMA (2010). Death in CHARGE syndrome after the neonatal period. Clinical Genetics. 77: 232-240. [Full Text]
Bermejo E and Martinez-Frias M-L (2010). Prevention, diagnosis and services. Advances in Experimental Medicine & Biology. 686: 55-75. [Abstract]
Clementi M, Di Gianantonio E, Cassina M, Leoncini E, Botto L, Mastroiacovo P and SAFE-Med Study Group (2010). Treatment of hyperthyroidism in pregnancy and birth defects. Journal of Clinical Endocrinology and Metabolism. 95: (11). E337-E341. [Full Text]
Czeizel AE, Puho EH and Banhidy F (2010). Sex ratio of newborn infants born to pregnant women with severe chronic constipation. Clinical Epidemiology. 2: 217-219. [Full Text]
Czeizel AE, Puho EH, Langmar Z, Acs N and Banhidy F (2010). A possible association of folic acid supplementation during pregnancy with reduction of preterm birth: a population-based study. European Journal of Obstetrics & Gynecology and Reproductive Biology. 48: (2). 135-140. [Full Text]
de Souza E, Alberman E and Morris J (2010). Down's syndrome: screening and antenatal diagnosis regionally in England and Wales 1989 - 2008. Journal of Medical Screening. 17: (4). 170-175. [Abstract]
Fernandez-Toral J, Rodriguez L, Plasencia A, Martinez-Frias M-L, Ewers E, Hamid AB, Ziegler M and Liehr T (2010). Four small supernumerary market chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report. Journal of Medical Case Reports. 4: 239 [Full Text]
Jentink J, Bakker M, Nijenhuis CM, Wilffert B and de Jong-van den Berg L (2010). Does folic acid use decrease the risk for spina bifida after in utero exposure to valproic acid?. Pharmacoepidemiology and Drug Safety. 19: 803-807. [Full Text]
MacDonald AH, Rodriguez L, Acena MI, Martinez-Frias M-L, Sanchez-Izquierdo D, Zuazo E and Martinez-Fernandez ML (2010). Subtelomeric deletion of 12p: description of a third case and review. American Journal of Medical Genetics Part A. 152A: 1561-1566. [Full Text]
Martinez-Frias M-L (2010). Can our understanding of epigenetics assist with primary prevention of congenital defects?. Journal of Medical Genetics. 47: 73-80. [Full Text]
Martinez-Frias M-L, de Frutos CA, Bermejo E, ECEMC Working Group and Nieto MA (2010). Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. American Journal of Medical Genetics Part A. 152A: 245-255. [Full Text]
Rankin J, Tennant P, Stothard KJ, Bythell M, Summerbell CD and Bell R (2010). Maternal body mass index and congenital anomaly risk: a cohort study. International Journal of Obesity. 34: 1371-1380. [Full Text]
Tennant P, Pearce MS, Bythell M and Rankin J (2010). 20-year survival of children born with congenital anomalies: a population-based study. The Lancet. 375: (20 Feb). 649-656. [Abstract]
van Beynum IM, Kapusta L, Bakker M, den Heijer M, Blom HJ and de Walle H (2010). Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects: a registry-based case-control study in the northern Netherlands. European Heart Journal. 31: 464-471. [Full Text]
Vos YJ, de Walle H, Bos KK, Stegeman JA, ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LEM, Stolte-Dijkstra I, Schrander-Stumpel C and Hofstra R (2010). Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. Journal of Medical Genetics. 47: 169-175. [Full Text]
Wertelecki W (2010). Malformations in a Chornobyl-impacted region. Pediatrics. 125: e836 [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2009). Senna treatment in pregnant women and congenital abnormalities in their offspring - a population-based case-control study. Reproductive Toxicology. 28: 100-104. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2009). No association between severe constipation with related drug treatment in pregnant women and congenital abnormalities in their offspring: a population-based case-control study. Congenital Anomalies. 50: 15-20. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2009). A possible association between maternal dyspepsia and congenital rectal/anal atresia/stenosis in their children: a population-based case-control study. Acta Obstetricia et Gynecologica Scandinavica. 88: 1017-1023. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2009). Rate of preterm births in pregnant women with common lower genital tract infection: a population-based study based on the clinical practice. Journal of Maternal-Fetal and Neonatal Medicine. 22: (5). 410-418. [Abstract]
Birnbaum S, Ludwig KU, Reutter H, Herms S, de Assis NA, Diaz-Lacava A, Barth S, Lauster C, Schmidt G, Scheer M, Saffar M, Martini M, Reich RH, Schiefke F, Hemprich A, Poetzsch S, Poetzsch B, Wienker TF, Hoffmann P, Knapp M, Kramer F-J, Nothen MM and Mangold E (2009). IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. European Journal of Oral Sciences. 117: 766-769. [Full Text]
Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, de Assis NA, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Berge SJ, Reich RH, Schiefke F, Hemprich A, Poetzsch S, Steegers-Theunissen RP, Poetzsch B, Moebus S, Horsthemke B, Kramer F-J, Wienker TF, Mossey P, Propping P, Cichon S, Hoffmann P, Knapp M, Nothen MM and Mangold E (2009). Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nature Genetics. 41: (4). 473-477. [Full Text]
Birnbaum S, Reutter H, Mende M, de Assis NA, Diaz-Lacava A, Herms S, Scheer M, Lauster C, Braumann B, Schmidt G, Martini M, Hemprich A, Poetzsch S, Knapp M, Nothen MM, Kramer F-J and Mangold E (2009). Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. European Journal of Oral Sciences. 117: 200-203. [Full Text]
del Carmen Saucedo M, de Vigan C, Vovodar V, Lelong N, Goffinet F and Khoshnood B (2009). Measurement of nuchal translucency and the prenatal diagnosis of Down syndrome. Obstetrics and Gynecology. 114: (4). 829-838. [Abstract]
Hodgson S, Shirley M, Bythell M and Rankin J (2009). Residential mobility during pregnancy in the north of England . BMC Pregnancy and Childbirth. 9: 52 [Full Text]
Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor M-C, Berger W, Carrel T, Steinmann B and Matyas G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation. 30: 1355-1364. [Full Text]
Martinez-Frias M-L (2009). Conjoined twins presenting with different sex: description of a second case that truly represents the earliest historical evidence in humans. American Journal of Medical Genetics Part A. 149A: 1595-1596. [Full Text]
Martinez-Frias M-L (2009). Correspondence to the authors: Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register. Neurology. 72: (23). 2054-2055. [Abstract]
Martinez-Frias M-L and ECEMC Working Group (2009). Epidemiology of acephalus/acardius monozygotic twins: new insights into an epigenetic causal hypothesis. American Journal of Medical Genetics Part A. 149A: 640-649. [Full Text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E and ECEMC Working Group (2009). Letter to the Editor: Human genetic selection for the MTHFR 677.T polymorfism: a leap in the dark. BioMed Central Public Health. [Full Text]
Martuzzi M, Mitis F, Bianchi F, Minichilli F, Comba P and Fazzo L (2009). Cancer mortality and congenital anomalies in a region of Italy with intense environmental pressure due to waste. Occupational and Environmental Medicine. 66: (11). 725-732. [Abstract]
Morris J and Alberman E (2009). Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. British Medical Journal. 339: (7731). b3794 [Full Text]
Pharoah POD, Glinianaia SV and Rankin J (2009). Congenital anomalies in multiple births after early loss of a conceptus. Human Reproduction. 24: (3). 726-731. [Full Text]
Ramsay L, Howe DT and Wellesley D (2009). Parental attitude to participating in long-term follow-up studies of their children's health after in utero diagnosis of abnormalities. Prenatal Diagnosis. 29: 207-212. [Full Text]
Rankin J, Chadwick T, Natarajan M, Howel D, Pearce MS and Pless-Mulloli T (2009). Maternal exposure to ambient air pollutants and risk of congenital anomalies. Environmental Research. 109: 181-187. [Full Text]
Rodriguez L, Martinez-Fernandez ML, Acena MI, Lopez Mendoza S, Martin Fumero L, Rodriguez de Alba M, Gallego-Merlo J and Martinez-Frias M-L (2009). Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient. American Journal of Medical Genetics Part A. 149A: 1058-1061. [Full Text]
Savva G and Morris J (2009). Ascertainment and accuracy of Down syndrome cases reported in congenital anomaly registers in England and Wales. Archives of Disease in Childhood - Fetal and Neonatal Edition. 94: F23-F27. [Full Text]
Stothard KJ, Tennant P, Bell R and Rankin J (2009). Maternal overweight and obesity and the risk of congenital anomalies. A systematic review and meta-analysis. Journal of the American Medical Association. 301: (6). 636-650. [Full Text]
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias M-L, Antonio P-A, Temtamy S, Aglan M, Goodship JA and Ruiz-Perez VL (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling. Human Mutation. 30: 1667-1675. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2008). No association between maternal recurrent genital herpes in pregnancy and higher risk for congenital abnormalities. Acta Obstetricia et Gynecologica Scandinavica. 87: 292-299. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2008). Possible association between acute pelvic inflammatory disease in pregnant women and congenital abnormalities in their offspring: a population-based case-control study. Birth Defects Research (Part A). 82: 563-570. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2008). No association between vulvovaginitis-bacterial vaginosis, related drug treatments of pregnant women, and congenital abnormalities in their offspring - a population-based case-control study. Central European Journal of Medicine. 3: (3). 332-340. [Full Text]
Bakker M, de Walle H and de Jong-van den Berg L (2008). Reply to Martinez-Frias and Rodriguez-Pinilla. Birth Defects Research (Part A). 82: 175-175. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2008). Maternal acute respiratory infectious diseases during pregnancy and birth outcomes. European Journal of Epidemiology. 23: (1). 29-35. [Full Text]
Bartfai Z, Kocsis J, Puho EH and Czeizel AE (2008). A population-based case-control teratologic study of promethazine use during pregnancy. Reproductive Toxicology. 25: (2). 276-285. [Full Text]
Blyth M, Howe DT, Gnanapragasam J and Wellesley D (2008). The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis. British Journal of Gynaecology. 115: 1096-1100. [Full Text]
Bythell M, Bell R, Taylor R, Zalewski S, Wright C, Rankin J and Ward Platt MP (2008). The contribution of late termination of pregnancy to stillbirth rates in Northern England, 1994-2005. British Journal of Gynaecology. 115: 664-666. [Full Text]
CARIS (2008). CARIS Review: 10 years of reporting. CARIS, Singleton Hospital.
Cotarelo R, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias M-L and Cruces J (2008). Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clinical Genetics. 73: 139-145. [Full Text]
Czeizel AE, Dudas I, Gidai J and Puho EH (2008). No effect of human chorionic gonadotropin treatment due to threatened abortion in early pregnancy for birth outcomes. Central European Journal of Medicine. 3: (1). 71-76. [Full Text]
Czeizel AE, Puho EH, Acs N and Banhidy F (2008). Delineation of a multiple congenital abnormality syndrome in the offspring of pregnant women affected with high fever-related disorders: a population-based study. Congenital Anomalies. 48: 158-166. [Full Text]
Czeizel AE, Puho EH, Acs N and Banhidy F (2008). Use of specified critical periods of different congenital abnormalities instead of the first trimester concept. Birth Defects Research (Part A). 82: 139-146. [Full Text]
Dadvand P, Rankin J, Shirley M, Rushton S and Pless-Mulloli T (2008). Descriptive epidemiology of congential heart disease in Northern England. Paediatric & Perinatal Epidemiology. 23: 58-65. [Full Text]
de Walle H and de Jong-van den Berg L (2008). Ten years after the Dutch public health campaign on folic acid: the continuing challenge. European Journal of Clinical Pharmacology. 64: 539-543. [Full Text]
Fazzo L, Belli S, Minichilli F, Mitis F, Santoro M, Martina L, Pizzuti R, Comba P, Martuzzi M and Bianchi F (2008). Cluster analysis of mortality and malformations in the Provinces of Naples and Caserta (Campania Region). Ann Ist Super Sanita. 44: (1). 99-111. [Full Text]
Fillingham A and Rankin J (2008). Prevalence, prenatal diagnosis and survival of gastroschisis. Prenatal Diagnosis. 28: 1232-1237. [Full Text]
Glinianaia SV, Rankin J and Wright C (2008). Congenital anomalies in twins: a register-based study. Human Reproduction. 23: (6). 1306-1311. [Full Text]
Irving C, Basu A, Richmond S, Burn J and Wren C (2008). Twenty-year trends in prevalence and survival of Down syndrome. European Journal of Human Genetics. 16: 1336-1340. [Full Text]
Khoshnood B, de Vigan C, Blondel B, Vovodar V, Cadio E and Goffinet F (2008). Long-term trends for socio-economic differences in prenatal diagnosis of Down syndrome: diffusion of services or persistence of disparities?. British Journal of Gynaecology. 115: 1087-1095. [Full Text]
Kjaer D, Puho EH, Christensen J, Vestergaard M, Czeizel AE, Sorensen HT and Olsen J (2008). Antiepileptic drug use, folic acid supplementation, and congenital abnormalities: a population-based case-control study. British Journal of Gynaecology. 115: 98-103. [Full Text]
Klungsoyr K, van der Hagen CB, Gradek GA, Thyssen F, Braathen GJ, Lie RT and Irgens L (2008). Registration of Down syndrome in the Medical Birth Registry of Norway: Validity and time trends. Acta Obstetricia et Gynecologica Scandinavica. 87: (8). 824-830.
Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide A-C, Dahoun S, Bottani A, Addor M-C, Antonarakis SE, Beckmann JS and Bena F (2008). Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. American Journal of Medical Genetics Part A. 146A: 2094-2102. [Full Text]
Martinez-Frias M-L (2008). The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome. American Journal of Medical Genetics Part A. 146A: 1477-1482. [Full Text]
Martinez-Frias M-L (2008). Genetic Drift. The Balance of Nature: Reflections on the physics and mathematics structure of the living world and the human genome. American Journal of Medical Genetics Part A. 146A: 1781-1787. [Full Text]
Martinez-Frias M-L and ECEMC Working Group (2008). Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?. American Journal of Medical Genetics Part A. 146A: (1). 26-34. [Full Text]
Martinez-Frias M-L and Rodriguez-Pinilla E (2008). Problem of using cases with genetic anomalies as a reference group in case-control studies on drug use and birth defects. Birth Defects Research (Part A). 82: (3). 173-174. [Full Text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E, Prieto D and ECEMC Working Group (2008). Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants. American Journal of Medical Genetics Part A. 146A: (1). 15-25. [Full Text]
McNally R, Rankin J, Shirley M, Rushton S and Pless-Mulloli T (2008). Space-time analysis of Down syndrome: results consistent with transient pre-disposing contagious agent. International Journal of Epidemiology. 37: 1169-1179. [Full Text]
Morris J and Savva G (2008). The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. American Journal of Medical Genetics Part A. 146A: 827-832. [Full Text]
Narumi Y, Aoki Y, Niihori T, Sakurai M, Cave H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T and Addor M-C (2008). Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. Journal of Human Genetics. 53: 834-841. [Abstract]
Puho EH, Czeizel AE, Acs N and Banhidy F (2008). Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study. Congenital Anomalies. 48: 126-136. [Full Text]
Rankin J, Silf K, Pearce MS, Parker L and Ward Platt MP (2008). Congenital anomaly and childhood cancer: a population-based, record linkage study. Pediatric Blood & Cancer. 51: 608-612. [Full Text]
Rodriguez L, Liehr T, Martinez-Fernandez ML, Lara A, Torres A and Martinez-Frias M-L (2008). A new small supernumary marker chromsome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man. Molecular Cytogenetics. 1: 4 [Full Text]
Rodriguez L, Martinez-Fernandez ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, Garcia A, Centeno F, Pantoja J, Jovani C and Martinez-Frias M-L (2008). Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects. Clinical Dysmorphology. 17: (1). 5-12. [Abstract]
Salerno P, Bianchi F, Pierini A, Baldi F, Carbone P, Mantovani A and Taruscio D (2008). Folic acid and congenital malformation: scientific evidence and public health strategies. Ann Ig. 20: (6). 519-530. [Abstract]
Swamy R, Embleton N and Hale J (2008). Sacrococcygeal teratoma over two decades: birth prevalence, prenatal diagnosis and clinical outcomes. Prenatal Diagnosis. 28: 1048-1051. [Full Text]
Wren C, Reinhardt Z and Khawaja K (2008). Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Archives of Disease in Childhood - Fetal and Neonatal Edition. 93: F33-F35. [Full Text]
Acs N, Banhidy F, Czeizel AE and Puho EH (2007). Ergotamine treatment during pregnancy and a higher rate of low birthweight and preterm birth. British Journal of Clinical Pharmacology. 1111: 2125-2132. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2007). A possible association between maternal glomerulonephritis and congenital intestinal atresia/stenosis - a population-based case-control study. European Journal of Epidemiology. 22: 557-564. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2007). Maternal kidney stones during pregnancy and adverse birth outcomes, particularly congenital abnormalities in the offspring. Archives of Gynecology and Obstetrics. 275: 481-487. [Full Text]
Bakker M, de Walle H, Dequito A, van den Berg PB and de Jong-van den Berg L (2007). Selection of controls in case-control studies on maternal medication use and risk of birth defects. Birth Defects Research (Part A). 79: 652-656. [Full Text]
Bakker M, Kolling P, van den Berg PB, de Walle H and de Jong-van den Berg L (2007). Increase in use of selective serotonin reuptake inhibitors in pregnancy during the last decade, a population-based cohort study from the Netherlands. British Journal of Clinical Pharmacology. 65: (4). 600-606. [Full Text]
Banhidy F, Acs N, Puho EH and Czeizel AE (2007). Pregnancy complications and delivery outcomes in pregnant women with migrane. European Journal of Obstetrics & Gynecology and Reproductive Biology. 134: (2). 157-163. [Abstract]
Banhidy F, Acs N, Puho EH and Czeizel AE (2007). Pregnancy complications and birth outcomes of pregnant women with urinary tract infections and related drug treatments. Scandinavian Journal of Infectious Diseases. 39: (5). 390-397. [Abstract]
Bartfai Z, Somoskovi A, Puho EH and Czeizel AE (2007). No teratogenic effect of prenoxdiazine: a population-based case-control study. Congenital Anomalies. 47: 16-21. [Full Text]
Beretta L, Hauschild M, Jeannet PY, Addor M-C, Maeder P and Truttmann AC (2007). Atypical presentation of Prader-Willi syndrome with cerebral venous thrombosis: association of fortuity?. Neuropediatrics. 3: (4). 204-206. [Abstract]
Chabchoub E, Rodriguez L, Galan E, Mansilla E, Martinez-Frias M-L, Martinez-Fernandez ML, FrynsJ-P and Vermeesch J (2007). Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. Journal of Medical Genetics. 44: 250-256. [Full Text]
Czeizel AE, Acs N, Banhidy F, Puho EH and Vogt G (2007). Primary prevention of congenital abnormalities due to high fever related maternal diseases by antifever therapy and folic acid supplementation. Current Woman's Health Reviews. 3: (3). 190-201. [Abstract]
Czeizel AE, Puho EH and Kazy Z (2007). The use of data set of the Hungarian case-control surveillance of congenital abnormalities for evaluation of birth outcomes beyond birth defects. Central European Journal of Public Health. 15: (4). 147-153. [Full Text]
Czeizel AE, Puho EH, Acs N and Banhidy F (2007). High fever-related maternal diseases as possible causes of multiple congenital abnormalities: a population-based case-control study. Birth Defects Research (Part A). 79: 544-551. [Full Text]
de Frutos CA, Vega S, Manzanares M, Flores JM, Huertas H, Martinez-Frias M-L and Nieto MA (2007). Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias. Developmental Cell. 13: 872-883. [Full Text]
de Walle H and de Jong-van den Berg L (2007). Growing gap in folic acid intake with respect to level of education in the Netherlands. Community Genetics. 10: (2). 93-96. [Abstract]
Felix JF, Steegers-Theunissen RP, de Walle H, de Klein A, Torfs C and Tibboel D (2007). Esophageal atresia and tracheoesophageal fistula in children of women exposed to diethylstilbestrol in utero. American Journal of Obstetrics and Gynecology. 197: (38). e1-e5. [Full Text]
Frias JL, Frias JP, Frias PA and Martinez-Frias M-L (2007). Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus. American Journal of Medical Genetics Part A. 143A: 2904-2909. [Full Text]
Hemming V and Rankin J (2007). Small intestinal atresia in a defined population: occurrence, prenatal diagnosis and survival. Prenatal Diagnosis. 27: 1205-1211. [Full Text]
Kjaer D, Horvath-Puho E, Christensen J, Vestergaard M, Czeizel AE, Sorensen HT and Olsen J (2007). Use of phenytoin,, phenobarbital or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study. Pharmacoepidemiology and Drug Safety. 16: (2). 181-188. [Abstract]
Kjaer D, Puho EH, Christensen J, Vestergaard M, Czeizel AE, Sorensen HT and Olsen J (2007). Use of phenytoin, phenobarbitol, or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study. Pharmacoepidemiology and Drug Safety. 16: 181-188. [Full Text]
Martinez-Frias M-L (2007). Postmarketing analysis of medicines: methodology and value of the Spanish case-control study and surveillance system in preventing birth defects. Drug Safety. 30: (4). 307-316. [Abstract]
Morris J and Wald NJ (2007). Estimating the risk of Down's syndrome in antenatal screening and the gestation at which this risk applies. Journal of Medical Screening. 14: (1). 5-7. [Full Text]
Morris J and Wald NJ (2007). Prevalence of neural tube defect pregnancies in England and Wales from 1964 to 2004. Journal of Medical Screening. 14: (2). 55-59. [Full Text]
Puho EH, Metneki J and Czeizel AE (2007). Drug treatment during pregnancy and isolated orofacial clefts in Hungary. Cleft Palate-Craniofacial Journal. 44: 194-202. [Full Text]
Rasinski C, Vorwerk W, Poetzsch S, Bartel-Friedrich S and Neumann K (2007). Newborn hearing screening in Saxony-Anhalt - current state. Archives of Perinatal Medicine. 13: (2). 48-49. [Full Text]
Rieubland C, de Viragh PA and Addor M-C (2007). Uncombable hair syndrome: a clinical report. European Journal of Medical Genetics. 50: 309-314. [Full Text]
Rodriguez L, Liehr T, Mrasek K, Mansilla E, Martinez-Fernandez ML, Garcia A and Martinez-Frias M-L (2007). Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review. American Journal of Medical Genetics Part A. 143A: 2727-2732. [Full Text]
Rodriguez L, Zollino M, Mansilla E, Martinez-Fernandez ML, Perez P, Murdolo M and Martinez-Frias M-L (2007). The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history. American Journal of Medical Genetics Part A. 143A: 995-998. [Full Text]
Rouhani P, Fleming LE, Frias JL, Martinez-Frias M-L, Bermejo E and Mendioroz J (2007). Pilot study of socioeconomic class, nutrition and birth defects in Spain. Maternal & Child Health Journal. 11: (4). 403-405. [Abstract]
Seliger G, Kantelhardt E, van der Wal C, Keller U, Eder K, Poetzsch S, Ropke F and Scheler C (2007). L-carnitine level in neonates - a large, retrospective analysis. Archives of Perinatal Medicine. 13: (2). 17-20. [Full Text]
Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L and Neri G (2007). Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. Human Genetics. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2006). Association between maternal panic disorders and pregnancy complications and delivery outcomes. European Journal of Obstetrics & Gynecology and Reproductive Biology. 124: (1). 47-52. [Abstract]
Artama M, Ritvanen A, Gissler M, Isojarvi J and Auvinen A (2006). Congenital structural anomalies in offspring of women with epilepsy - a population-based cohort study in Finland. International Journal of Epidemiology. 35: 280-287. [Full Text]
Bakker M, Jentink J, Vroom F, van den Berg PB, de Walle H and de Jong-van den Berg L (2006). Drug prescription patterns before, during and after pregnancy for chronic, occasional and pregnancy-related drugs in the Netherlands. International Journal of Gynecology and Obstetrics. 113: 559-568. [Full text]
Bermejo E, Lapunzina P and Galan E (2006). Correspondence: New findings in craniofacial dyssynostosis. American Journal of Medical Genetics Part A. 134A: 344-345. [Full Text]
Bermejo E, Mendioroz J, Cuevas L and Martinez-Frias M-L (2006). The incidence of gastroschisis: is also increasing in Spain particularly among babies of young mothers (Letter to the Editor). British Medical Journal. 332: (7538). 424
Bianca S, Bartoloni G, Auditore S, Reale A, Tetto C, Ingegnosi C, Pirruccello B and Ettore G (2006). Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis. Cardiology. 105: 37-40. [Full text]
Bianchi F (2006). Syndial offers reimbursement to women of Augsta-Priolo (Siciliy) who had abortions or malformed babies. Epidemiology Prevalence. 30: (2). 76-77.
Calvert JK, Boyd P, Chamberlain P, Said S and Lakhoo K (2006). Outcome of antenatally suspected congenital cystic adenomatoid malformation of the lung: 10 years' experience 1991-2001. Archives of Disease in Childhood - Fetal and Neonatal Edition. 91: F26-F28. [Full Text]
Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Dery C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martinez-Fernandez ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JBP, Tacke A, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP and Jackson AP (2006). Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nature Genetics. 38: (8). 910-916. [Full text]
Gallot D, Coste K, Francannet C, Laurichesse Delmas H, Boda C, Ughetto S, Vanlieferinghen P, Scheye T, Vendittelli F, Labbe A, Dechelotte PJ, Sapin V and Lemery D (2006). Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne (France). European Journal of Obstetrics & Gynecology and Reproductive Biology. 125: 202-205. [Full Text]
Garne E (2006). Atrial and ventricular septal defects - epidemiology and spontaneous closure. Journal of Maternal-Fetal and Neonatal Medicine. 19: (5). 271-276. [Full Text]
Khoshnood B, de Vigan C, Blondel B, Lhomme V, Vodovar V, Garel M and Goffinet F (2006). Women's interpretation of an abnormal result on measurement of fetal nuchal translucency and maternal serum screening for prenatal testing of Down syndrome. Ultrasound in Obstetrics and Gynecology. 28: 242-248. [Full Text]
Khoshnood B, de Vigan C, Vovodar V, Breart G, Goffinet F and Blondel B (2006). Advances in medical technology and creation of dispariites: the case of Down Syndrome. American Journal of Public Health. 96: (12). 2139-2144. [Full Text]
Liehr T, Mrasek K, Wiesel A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch J, Ramel C, Polityko A, Haas O, Anderson J, Claussen U, Von Eggeling F and Starke H (2006). Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation. Cytogenet Genome Research. 112: 23-24. [Abstract]
Martinez-Frias M-L (2006). Folic acid: a public health challenge (letter to the Editor). The Lancet. 367: (9528). 2057
Martinez-Frias M-L and Bermejo E (2006). Do we have enough eviences to consider that infertility treatments may not be causally related with congenital anomalies in newborn infants? (letter to the Editor). British Medical Journal. [Full text]
Martinez-Frias M-L, Perez P, Desviat LR, Castro M, Leal F, Rodriguez-Pinilla E, Mansilla E, Martinez-Fernandez ML, Bermejo E, Rodriguez L, Prieto D and Ugarte M (2006). Maternal polymorphisms 677C-t and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down Syndrome?. American Journal of Medical Genetics Part A. 140A: (9). 987-997. [Full text]
Meijer W, de Jong-van den Berg L, van den Berg MP, Verheij J and de Walle H (2006). Clomiphene and hypospadias on a detailed level: signal or chance?. Birth Defects Research (Part A). 76: 249-252. [Full text]
Morris J, Alberman E and Mutton D (2006). The proportions of Down's syndrome pregnancies detected prenatally in England and Wales from 1989 to 2004. Journal of Medical Screening. 13: (4). 163-165. [Full text]
Morris J, Mutton D and Alberman E (2006). Rates of Down Syndrome at the Upper extreme of maternal age: considerations and recommendations in analysis [comment]. Prenatal Diagnosis. 26: (11). 1091 [Full text]
Pakkasjarvi N, Ritvanen A, Herva R, Peltonen L, Kestila M and Ignatius J (2006). Lethal Congenital Contracture Syndrome (LCCS) and other lethal arthrogryposes in Finland - an epidemiological study. American Journal of Medical Genetics Part A. 140A: 1834-1839. [Full Text]
Pierini A, Bianchi F, Salerno P and Taruscio D (2006). National Register of Rare Diseases: congenital malformations and folic acid. Rapporti ISTISAN 06/34. 1-114. [Full text]
Savva G, Morris J, Mutton D and Alberman E (2006). Maternal age-specific fetal loss rates in Down syndrome pregnancies. Prenatal Diagnosis. 2006: (26). 499-504. [Full text]
Vroom F, de Walle H, Van de Laar MAJF, Brouwers JRGJ and de Jong-van den Berg L (2006). Disease-modifying antirheumatic drugs in pregnancy: current status and implications of the future. Drug Safety. 29: (10). 845-863.
Acs N, Banhidy F, Puho EH and Czeizel AE (2005). Population-based case-control study of mebendazole in pregnant women for birth outcomes. Congenital Anomalies. 45: 85-88. [Full Text]
Acs N, Banhidy F, Puho EH and Czeizel AE (2005). Maternal influenza during pregnancy and risk of congenital abnormalities in offspring. Birth Defects Research (Part A). 73: 989-996. [Full Text]
Acs N, Puho EH, Banhidy F and Czeizel AE (2005). Association between bronchial asthma in pregnancy and shorter gestational age in a population-based study. Journal of Maternal-Fetal and Neonatal Medicine. 18: (2). 107-112. [Full Text]
Andersen B, Ostergaard L, Puho EH, Skriver MV and Schonheyder HC (2005). Ectopic pregnancies and reproductive capacity after chlamydia trachomatis positive and negative test results: a historical follow-up study. Sexually Transmitted Diseases. 32: (6). 377-381. [Full Text]
Anumba DO, Scott JES, Plant ND and Robson S (2005). Diagnosis and outcome of fetal lower urinary tract obstruction in the northern region of England. Prenatal Diagnosis. 25: 7-13. [Full Text]
Bermejo E, Feliz V, Lapunzina P, Galan E, Soler V, Delicado A, Pantoja J, Marquez M-D, Garcia M, Mora E, Cuevas L, Ureta A, Lopez-Pajares I and Martinez-Frias M-L (2005). Craniofacial dyssnostosis: description of the first four Spanish cases and review. American Journal of Medical Genetics Part A. 132A: 41-48. [Full Text]
Bianca S, Ingegnosi C, Auditore S, Reale A, Galasso MG, Bartoloni G, Arancio A and Ettore G (2005). Prenatal and postnatal findings of acrania. Arch Gynecol Obstet. 271: 256-258. [Full Text]
Calzolari E and Baroncini A (2005). International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna Region, Italy. Community Genetics. 8: (2). 122-129. [Abstract]
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M and Fischetto R (2005). Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. American Journal of Medical Genetics Part A. 134A: 247-253. [Full Text]
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Lagana C, Tenconi R, Rocchi M and Pramparo T (2005). Reciprocal translocations: a trap for cytogenetists?. Human Genetics. 117: 571-582. [Full Text]
Czeizel AE and Puho EH (2005). Maternal use of nutritional supplements during the first month of pregnancy and decreased risk of Down's syndrome: case-control study. Nutrition. 21: 698-704. [Full Text]
Czeizel AE and Vargha P (2005). A case-control study of congenital abnormality and dimenhydrinate usage during pregnancy. Archives of Gynecology and Obstetrics. 271: 113-118. [Full Text]
Czeizel AE, Dudas I and Puho EH (2005). Short-term paracetamol therapy during pregnancy and a lower rate of preterm birth. Paediatric & Perinatal Epidemiology. 19: 106-111. [Full Text]
Destree A, Fourneau C, Dugauquier C, Rombout S, Sartenaer D and Gillerot Y (2005). Prenatal diagnosis of trisomy 6 mosaicism. Prenatal Diagnosis. 25: 354-357. [Full Text]
Gallot D, Marceau G, Coste K, Hadden H, Robert-Gnansia E, Laurichesse Delmas H, Dechelotte PJ, Labbe A, Dastugue B, Lemery D and Sapin V (2005). Congenital diaphragmatic hernia: a retinoid-signaling pathway disruption during lung development?. Birth Defects Research (Part A). 73: 523-531. [Full Text]
Ghassibe M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R and Vikkula M (2005). Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. European Journal of Human Genetics. 13: 1239-1242. [Full Text]
Goumy C, Beaufrere A, Francannet C, Tchirkov A, Laurichesse Delmas H, Geissler F, Lemery D, Dechelotte PJ and Vago P (2005). Prenatal detection of mosias isochromsome 20q: a fourth report with abnormal phenotype. Prenatal Diagnosis. 25: 653-655. [Full Text]
Grati FR, Lalatta F, Turolla L, Cavallari U, Gentilin B, Rossella F, Cetin I, Antonazzo P, Bellotti M, Dulcetti F, Baldo D, Tenconi R, Simoni G and Miozzo M (2005). Three cases with de novo 6q imbalance and variable prenatal phenotype. American Journal of Medical Genetics Part A. 136A: 254-258. [Full Text]
Haga H-J, Gjesdal CG, Koksvik HS, Skomsvoll JF, Irgens L and Ostensen M (2005). Pregnancy outcome in patients with primary Sjogren's syndrome. A case-control study. Journal of Rheumatology. 32: 1734-1736. [Full Text]
Howarth ES, Draper E, Budd J, Konje JC, Clarke M and Kurinczuk J (2005). Population-based study of the outcome following the prenatal diagnosis of cystic hygroma. Prenatal Diagnosis. 25: 286-291. [Full Text]
Jaillet J, Robert-Gnansia E, Till M, Vinciguerra C and Edery P (2005). Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder Syndrome): a possible role for Vitamin K deficiency. Birth Defects Research (Part A). 73: 188-193. [Full Text]
Jensen LS, Puho EH, Pedersen R, Mortensen FV and Sorensen HT (2005). Long-term survival after colorectal surgery associated with buffy-coat-poor and leucocyte-depleted blood transfusion: a follow-up study. The Lancet. 365: (9460). 681-682. [Abstract]
Kallen B and Robert-Gnansia E (2005). Maternal drug use, fertility problems, and infant craniostenosis. Cleft Palate-Craniofacial Journal. 42: (6). 589-593. [Full Text]
Kazy Z, Puho EH and Czeizel AE (2005). Teratogenic potential of vaginal metronidazole treatment during pregnancy. European Journal of Obstetrics & Gynecology and Reproductive Biology. 123: 174-178. [Full Text]
Kazy Z, Puho EH and Czeizel AE (2005). Population-based case-control study of oral ketoconazole treatment for birth outcomes. Congenital Anomalies. 45: 5-8. [Full Text]
Kazy Z, Puho EH and Czeizel AE (2005). Effect of vaginal metronidazole and miconazole treatment during pregnancy for gestational age and birth weight in a population-based study. Archives of Gynecology and Obstetrics. 272: 294-297. [Full Text]
Kazy Z, Puho EH and Czeizel AE (2005). Parenteral polymyxin B treatment during pregnancy. Reproductive Toxicology. 20: 181-182. [Full Text]
Kazy Z, Puho EH and Czeizel AE (2005). The possible association between the combination of vaginal metronidazole and miconazole treatment and poly-syndactyly. Population-based case-control teratologic study. Reproductive Toxicology. 20: 89-94. [Full Text]
Khoshnood B, de Vigan C, Vodovar V, Goujard J, Lhomme V, Bonnet D and Goffinet F (2005). Trends in prenatal diagnosis, pregnancy termination and perinatal mortality of newborns with congenital heart disease in France, 1983-2000: a population-based evaluation. Pediatrics. 115: 95-101. [Full Text]
Klemetti R, Gissler M, Sevon T, Koivurova S, Ritvanen A and Hemminki E (2005). Children born after assisted fertilization have an increased rate of major congenital anomalies. Fertility and Sterility. 84: (5). 1300-1307. [Abstract]
Latos- Bielenska A and Materna-Kiryluk A (2005). Polish Registry of Congenital Malformations - aims and organization of the Registry monitoring 300,000 births a year. Journal of Applied Genetics. 46: (4). 341 [Abstract]
Martinez-Frias M-L (2005). Correspondence: The real earliest historical evidence of Down syndrome. American Journal of Medical Genetics Part A. 132A: 231 [Full Text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E, Prieto D and Prieto L (2005). MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women. American Journal of Medical Genetics Part A. 134A: 461 [Full Text]
Martinez-Frias M-L, Frias JP, Bermejo E, Rodriguez-Pinilla E, Prieto L and Frias JL (2005). Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes. Diabetic Medicine. 22: 775-781. [Full Text]
Martinez-Frias M-L, Toral JF, Lopez-Grondona, Mendioroz J and Bermejo E (2005). Growth deficiency, facial anomalies, and brachydactyly (Frias syndrome): a second family. American Journal of Medical Genetics Part A. 137A: 288-291. [Full Text]
Meijer W, de Walle H, Kerstjens-Frederikse WS and de Jong-van den Berg L (2005). Folic acid sensitive birth defects in association with intrauterine exposure to folic acid antagonists. Reproductive Toxicology. 20: 203-207. [Full Text]
Mendioroz J, Toral JF, Suarez E, Lopez-Grondona, Kjaer KW, Bermejo E and Martinez-Frias M-L (2005). Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. American Journal of Medical Genetics Part A. 135A: 211-213. [Full Text]
Metneki J and Czeizel AE (2005). Increasing total prevalence rate of cases with Down syndrome in Hungary. European Journal of Epidemiology. 20: 525-535. [Full Text]
Metneki J, Puho EH and Czeizel AE (2005). Maternal diseases and isolated orofacial clefts in Hungary. Birth Defects Research Part A Clinical and Molecular Teratology. 73: (9). 617-623. [Full Text]
Morris J, Mutton D and Alberman E (2005). Recurrences of free Trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register. Prenatal Diagnosis. 25: 1120-1128. [Full Text]
Nielsen GL, Norgard B, Puho EH, Rothman KJ, Sorensen HT and Czeizel AE (2005). Risk of specific congenital abnormalities in offspring of women with diabetes. Diabetic Medicine. 22: 693-696. [Full Text]
Nordby K-C, Andersen A, Irgens L and Kristensen P (2005). Indicators of mancozeb exposure in relation to thyroid cancer and neural tube defects in farmers' families. Scandinavian Journal of Work, Environment and Health. 31: (2). 89-96. [Full Text]
Norgard B, Puho EH, Czeizel AE, Skriver MV and Sorensen HT (2005). Aspirin use during early pregnancy and the risk of congenital abnormalities: a population-based case-control study. American Journal of Obstetrics and Gynecology. 192: 922-923. [Full Text]
Petik D, Puho EH and Czeizel AE (2005). Evaluation of maternal infusion therapy during pregnancy for fetal development. International Journal of Medical Sciences. 2: (4). 137-142. [Full Text]
Puho EH, Metneki J and Czeizel AE (2005). Maternal employment status and isolated orofacial clefts in Hungary. Central European Journal of Public Health. 13: (3). 144-148. [Abstract]
Richmond S and Atkins J (2005). A population-based study of the prenatal diagnosis of congenital malformation over 16 years. British Journal of Gynaecology. 112: 1349-1357. [Full Text]
Rimessi P, Gualandi F, Duprez L, Spitali P, Neri G, Merlini L, Calzolari E, Muntoni F and Ferlini A (2005). Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. American Journal of Medical Genetics Part A. 132A: 391-394. [Full Text]
Rodriguez L, Zollino M, Climent S, Mansilla E, Lopez-Grondona, Martinez-Fernandez ML, Murdolo M and Martinez-Frias M-L (2005). The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. American Journal of Medical Genetics Part A. 136A: 175-178. [Full Text]
Salvador J, Borrell A and Lladonosa A (2005). Increasing detection rates of birth defects by prenatal ultrasound leading to apparent increasing prevalence. Lessons learned from the population-based registry of birth defects of Barcelona. Prenatal Diagnosis. 25: 991-996. [Full Text]
Sanchis A, Cervero L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ and Martinez-Frias M-L (2005). Genetic syndromes mimic congenital infections. Journal of Pediatrics. 146: 701-705. [Full Text]
Stoll C and Martel-Petit V (2005). Chromosomal region 13q21q31 and heterochrony of development. Genetic Counselling. 16: (4). 371-376. [Abstract]
Sulko J, Czarny-Ratajczak, Wozniak A, Latos- Bielenska A and Kozlowski K (2005). Novel amino acid substitution in the y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. American Journal of Medical Genetics Part A. 137A: 292-297. [Full Text]
Tanner K, Sabrine N and Wren C (2005). Cardiovascular malformations among preterm infants. Pediatrics. 116: e833 [Full Text]
Vogt G, Puho EH and Czeizel AE (2005). Population-based case-control study of isolated congenital cataract. Birth Defects Research (Part A). 73: 997-1005. [Full Text]
Vogt G, Puho EH and Czeizel AE (2005). A population-based case-control study of isolated anophthalmia and microphthalmia. European Journal of Epidemiology. 20: 939-946. [Full Text]
Vogt G, Puho EH and Czeizel AE (2005). A population-based case-control study of isolated ocular coloboma. Opthalmic Epidemiology. 12: 191-197. [Full Text]
Vollset S E, Gjessing H, Tandberg A, Ronning T and Irgens L (2005). Folate supplementation and twin pregnancies. Epidemiology. 16: (2). 201-205.
Boyd P, Tondi F, Hicks NR and Chamberlain P (2004). Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study. British Medical Journal. 328: 137-140. [Full Text]
Cordier S, Chevrier C, Robert-Gnansia E, Lorente C, Brula P and Hours M (2004). Risk of congenital anomalies in the vicinity of municipal solid waste incinerators. Occupational and Environmental Medicine. 61: 8-15. [Full Text]
Czeizel AE and Puho EH (2004). Association between severe nausea and vomiting in pregnancy and lower rate of preterm births. Paediatric & Perinatal Epidemiology. 18: 253-259. [Full Text]
Czeizel AE, Kazy Z and Puho EH (2004). Tolnaftate spray treatment during pregnancy. Reproductive Toxicology. 18: 433-444. [Full Text]
Czeizel AE, Kazy Z and Puho EH (2004). Population-based case-control teratologic study of topical miconazole. Congenital Anomalies. 44: 41-45. [Full Text]
Czeizel AE, Metneki J, Kazy Z and Puho EH (2004). A population-based case-control study of oral griseofulvin treatment during pregnancy. Acta Obstetricia et Gynecologica Scandinavica. 83: 827-831. [Full Text]
Czeizel AE, Puho EH, Banhidy F and Acs N (2004). Oral pyridoxine during pregnancy: potential protective effect for cardiovascular malformations. Drugs in R & D. 5: (5). 259-269. [Abstract]
Czeizel AE, Puho EH, Sorensen HT and Olsen J (2004). Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy. Congenital Anomalies. 44: 79-86. [Full Text]
Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2004). A population-based case-control study of oral chlordiazepoxide use during pregnancy and risk of congenital abnormalities. Neurotoxicology and Teratology. 26: 593-598. [Full Text]
Galan-Gomez E, Carbonell-Perez J M, Cardesa-Garcia JJ, Val-Sanchez de Leon JM, Campo-Sampedro FM, Martinez-Frias M-L and Frias JL (2004). A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpeuch syndromes: a new MCA syndrome?. American Journal of Medical Genetics Part A. 125A: 306-309. [Full Text]
Garne E and Andersen H-J (2004). The impact of multiple pregnancies and malformations on perinatal mortality. Journal of Perinatal Medicine. 32: (3). 215-219.
Heuterman J, de Walle H, Poortvliet M, Bouman K and Cornel M (2004). Age at postnatal diagnosis of Down syndrome in the Northern Netherlands for the period 1981-2000. Community Genetics. 7: 55-59. [Abstract]
Kazy Z, Puho EH and Czeizel AE (2004). Levamisole (Decaris) treatment during pregnancy. Reproductive Toxicology. 19: (1). 3-3. [Full Text]
Kazy Z, Puho EH and Czeizel AE (2004). Gestational age and prevalence of preterm birth after vaginal metronidazole treatment during pregnancy. International Journal of Gynecology and Obstetrics. 87: (2). 161-162. [Abstract]
Khoshnood B, Blondel B, de Vigan C and Breart G (2004). Socioeconomic barriers to informed decisionmaking regarding maternal serum screening for Down syndrome: results of the French National Perinatal Survey of 1998. American Journal of Public Health. 94: (3). 484-491. [Full Text]
Khoshnood B, de Vigan C, Vodovar V, Goujard J and Goffinet F (2004). A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000. British Journal of Gynaecology. 111: 485-490. [Full Text]
Martinez-Frias M-L (2004). Segmentation anomalies of the vertebras and ribs: one expression of the primary development field. American Journal of Medical Genetics Part A. 128A: 127-131. [Full Text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E and Frias JL (2004). Risk of Congenital Anomalies Associated with Different Sporadic and Daily Doses of Alcohol Consumption during Pregnancy: A Case Control Study. Clinical and Molecular Teratotology, Birth Defects Research (Part A). 70: 194-200. [Full Text]
Martinez-Frias M-L, Prieto D, Prieto L, Bermejo E, Rodriguez-Pinilla E and Cuevas L (2004). Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain. Birth Defects Research (Part A). 70: 75-81. [Full Text]
Martinez-Frias M-L, Rodriguez L, Lopez-Grondona, Bermejo E, Rodriguez-Pinilla E and Frias JL (2004). Frequency of neural tube defects and Down syndrome in the same sibship: analysis of the Spanish ongoing case-control study. American Journal of Medical Genetics Part A. 126A: 430-431. [Full Text]
Medveczky E and Puho EH (2004). Parental employment status and neural-tube defects and folic acid/multivitamin supplementation in Hungary. European Journal of Obstetrics & Gynecology and Reproductive Biology. 115: (2). 178-184. [Abstract]
Medveczky E, Puho EH and Czeizel AE (2004). An evaluation of maternal illnesses in the origin of neural-tube defects. Archives of Gynecology and Obstetrics. 270: 244-251. [Full Text]
Medveczky E, Puho EH and Czeizel AE (2004). The use of drugs in mothers of offspring with neural-tube defects. Pharmacoepidemiology and Drug Safety. 13: 443-455. [Full Text]
Metneki J, Szunyogh M, Sandor J and Siffel C (2004). The impact of prevention strategies on the prevalence of neural tube defects in Hungary. Reproductive Toxicology. 18: 149-149. [Full Text]
Patel Y, Boyd P, Chamberlain P and Lakhoo K (2004). Follow-up of children with isolated fetal echogenic bowel with particular reference to bowel-related symptoms. Prenatal Diagnosis. 24: 35-37. [Full Text]
Sandor J, Szunyogh M, Metneki J and Siffel C (2004). Small area inequalities investigation on Down Syndrome occurrence and its application in monitoring for environmental and screening related problems. Reproductive Toxicology. 18: 153-153. [Full Text]
Szunyogh M, Metneki J, Sandor J and Siffel C (2004). Knowledge and use of folic acid supplementation among mothers in Hungary. Reproductive Toxicology. 18: 149-149. [Full Text]
Addor M-C, Feldmeyer L and Hohlfed J (2003). Epidémiologie des fentes labio-maxillo-palatines dans le canton de Vaud. Revue medicale de la Suisse romande. 123: 501-505.
Arroyo Carrera I, Pitarch V, Garcia MJ, Barrio AR and Martinez-Frias M-L (2003). Unusual congenital abdominal wall defect and review. American Journal of Human Genetics. 119: (A). 211-213. [Full Text]
Bosi G, Garani G, Scorrano M, Calzolari E and IMER Working Party (2003). Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry. Journal of Pediatrics. 142: (6). 690-698. [Full Text]
Bosi G, Garani G, Scorrano M, Calzolari E and IMER Working Party (2003). Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry. Journal of Pediatrics. 143: (4). 531 [Abstract]
Calzolari E, Garani G, Cocchi G, Magnani C, Rivieri F, Neville A, Astolfi G, Baroncini A, Garavelli L, Gualandi F, Scorrano M, Bosi G and IMER Working Group (2003). Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy). European Journal of Epidemiology. 18: (8). 773-780. [Full Text]
Christensen J, Hansen LK and Garne E (2003). Congenital hydrocephalus - Prevalence and Prognosis. Ugeskr Laeger. 165: (5). 466-469. [Abstract]
Czeizel AE and Vargha P (2003). Case-control study of teratogenic potential of thiethylperazine, an anti-emetic drug. British Journal of Obstetrics and Gynaecology. 110: 497-499. [Full Text]
Czeizel AE, Eros E, Rockenbauer M, Sorensen HT and Olsen J (2003). Short-term oral diazepam treatment during pregnanyc: a population-based teratological case-control study. Clinical Drug Investigation. 23: (7). 451-462. [Abstract]
Czeizel AE, Kazy Z and Puho EH (2003). A population-based case-control teratological study of oral nystatin treatment during pregnancy. Scandinavian Journal of Infectious Diseases. 35: 830-835. [Full Text]
Czeizel AE, Puho EH, Bartfai Z and Somoskovi A (2003). A possible association between oral aminophylline treatment during pregnancy and skeletal congenital abnormalities. Clinical Drug Investigation. 23: (12). 803-816. [Abstract]
Dastgiri S, Gilmour W and Stone D (2003). Survival of chilfren born with congenital anomalies. Archives of Disease in Childhood. 88: 391-394. [Full Text]
Frias JP, Martinez-Frias M-L, Frias PA and Frias JL (2003). Obesity increases the risk of congenital heart defects in women with gestational diabetes mellitus. Diabetologia. 46: (A 66). 184
Garne E, Rasmussen L and Husby S (2003). Gastrointestinal malformations in Funen County 1980-1993. European Journal of Pediatric Surgery. 12: (2). 101-106.
Guillem P, Fabre B, Cans C, Robert-Gnansia E and Jouk PS (2003). Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère). Prenatal Diagnosis. 23: 877-883. [Full Text]
Kevern L, Warwick D, Wellesley D, Senbaga R and Clarke NMP (2003). Prenatal ultrasound: detection and diagnosis of limb abnormalities. Journal of Pediatric Orthopaedics. 23: (2). 251-253. [Abstract]
Kock K, Vestergaard V, Hardt-Madsen M and Garne E (2003). Declining Autopsy Rates in Stillbirths and Infant Deaths: Results from Funen County, Denmark 1986-96. Journal of Maternal-Fetal and Neonatal Medicine. 13: (6). 403-407. [Full Text]
Lazjuk G, Verger P, Gagniere B, Rkavchuk Zh, Zatsepin I and Robert-Gnansia E (2003). The Congenital Anomalies Registry in Belarus: a tool for assessing the public health impact of the Chernobyl accident. Reproductive Toxicology. 17: 659-666.
Mammi I, Basile RT, Bellato S, Belli S, Benedicenti F, Boni S, Castellen C, Clementi M, Di Gianantonio E, Petrella M, Turolla L and Tenconi R (2003). Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North East Italy. American Journal of Medical Genetics Part A. 121: (A). 214-218. [Full Text]
Martinez-Frias M-L, Bermejo E and Rodriguez-Pinilla E (2003). Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (Letter to the Editor). American Journal of Medical Genetics Part A. 116: (A). 101
Martinez-Frias M-L, Rodriguez-Pinilla E, Bermejo E and Prieto L (2003). Response to Dr. Narchi’s comments on “Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome. American Journal of Medical Genetics Part A. 121: (A). 191-192. [Full Text]
Norgard B, Puho EH, Pedersen L, Czeizel AE and Sorensen HT (2003). Risk of congenital abnormalities in children born to women with ulcerative colitis: a population-based, case-control study. American Journal of Gastroenterology. 98: 2006-2010. [Abstract]
Pradat P, Robert-Gnansia E, Di Tanna GL, Rosano A, Lisi A and Mastroiacovo P (2003). First trimester exposure to corticosteroids and oral clefts. Birth Defects Research (Part A). 67: 968-970.
Rodriguez L, Martinez Guardia N, Herens C, Jamar M, Verloes A, Lopez F, Santos Munoz J and Martinez-Frias M-L (2003). Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review. American Journal of Medical Genetics Part A. 122: (A). 119-124. [Full Text]
Siffel C, Metneki J, Szalma K and Szunyogh M (2003). Prevention strategies and prevalence of neural tube defects in Hungary between 1987 and 1999. Reproductive Toxicology. 17: 126 [Abstract]
Bache A and Garne E (2002). Congenital heart diseases in Funen Country. Ugeskr Laeger. 2002: (4). 69-72.
Dastgiri S, Stone D, Le-Ha C and Gilmour W (2002). Prevalence and secular trend of congenital anomalies in Glasgow, UK. Archives of Disease in Childhood. 86: 257-263. [Full text]
de Walle H and de Jong-van den Berg L (2002). Insufficient folic acid intake in the Netherlands: what about the future?. Teratology. 66: 40-43.
de Walle H, Cornel M and de Jong-van den Berg L (2002). Three years after the Dutch folic acid campaign: growing socio-economic differences. Preventative Medicine. 35: 65-69. [Full text]
Eros E, Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2002). A population-based case-control teratologic study of nitrazepam, medazepam, tofisopam, alprazolum and clonazepam treatment during pregnancy. European Journal of Obstetrics & Gynecology and Reproductive Biology. 101: 147-154. [Full Text]
Garne E (2002). Antepileptic drugs and malformations - induced abortions must be included. Ugeskr Laeger. 164: 918
Garne E, Rasmussen L and Husby S (2002). Gastrointestinal malformations in Funen County, Denmark - Epidemiology, Association Malformations, Surgery and Mortality. European Journal of Pediatric Surgery. 12: 101-106.
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E and Frias JL (2002). Reply to the research letter by Bohring "OEIS Complex, VATER, and the ongoing difficulties in terminology and delineation". American Journal of Medical Genetics Part A. 107: 77 [Full text]
Martinez-Frias M-L, Rodriguez L, Lopez F, Bermejo E and Rodriguez-Pinilla E (2002). Nowadays it is preceptive to perform chromosomal studies with high resolution G-Bands and FISH techniques when necessary. American Journal of Medical Genetics Part A. 108: (3). 254 [Full text]
Martinez-Frias M-L, Rodriguez-Pinilla E, Bermejo E and Prieto L (2002). Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down Syndrome. American Journal of Medical Genetics Part A. 112: (4). 335-337. [Full text]
Postma M, Londeman J, Veenstra M and de Walle H (2002). Cost-effectiveness of periconceptional supplementation of folic acid. Pharmacy World and Science. 24: (1). 8-11.
Rodriguez L, Cuadrado-Perez I, Herrera-montes J, Lorente-Jarena ML, Lopez-Grondona and Martinez-Frias M-L (2002). Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele. American Journal of Medical Genetics Part A. 110: (1). 73-77. [Full text]
Rodriguez L, Lopez F, Paisan L, del Nar Portugues de la Red M, Ruiz AM, Blanco M, Antelo Cortizas J and Martinez-Frias M-L (2002). Pure partial trisomy 7Q: two new patients and review. American Journal of Medical Genetics Part A. 113: (2). 218-224. [Full text]
van der Pal-de Bruin KM and Graafmans W (2002). The influence of prenatal screening and termination of pregnancy on perinatal mortality rates. Prenatal Diagnosis. 22: 966-972.
Wang R, Martinez-Frias M-L and Graham JM (2002). Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. Journal of Pediatrics. 141: 611-617.
Wellesley D, Boyle T, Barber J and Howe DT (2002). Retrospective audit of different antenatal screening policies for Down's syndrome in eight district general hospitals in one health region. British Medical Journal. 325: 15 [Full Text]
Barisic I and Clementi M (2001). Evaluation of Prenatal Ultrasound Diagnosis of Fetal Abdominal Wall Defects by 19 European Registries. Ultrasound in Obstetrics and Gynecology. 18: 309-316.
Boyd P and Chamberlain P (2001). Risk of adverse birth outcomes near landfill sites: local registers provide more accurate information. British Medical Journal. 323: 1366
Clementi M and Stoll C (2001). The EUROSCAN Study. Ultrasound in Obstetrics and Gynecology. 18: 297-300.
Czeizel AE (2001). The ethical issues of the postmarketing survillance of drug teratogenicity in Hungary. Pharmacoepidemiology and Drug Safety. 10: 635-639. [Full Text]
Czeizel AE (2001). Drug use during pregnancy. The Lancet. 357: 800-800. [Full Text]
Czeizel AE, Rockenbauer M, Olsen J and Sorensen HT (2001). A population-based case-control study of the safety of oral anti-tuberculosis drug treatment during pregnancy. International Journal of Tuberculosis and Lung Disease. 5: (6). 564-568. [Full Text]
Czeizel AE, Rockenbauer M, Siffel C and Varga E (2001). Description and mission evaluation of the Hungarian case-control surveillance of congenital abnormalities, 1980-1996. Teratology. 63: 176-185. [Full Text]
Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2001). Augmentin treatment during pregnancy and the prevalence of congenital abnormalities. A population-based case-control teratologic study. European Journal of Obstetrics & Gynecology and Reproductive Biology. 97: 188-192. [Full Text]
Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2001). Nitrofurantoin and congenital abnormalities. European Journal of Obstetrics & Gynecology and Reproductive Biology. 95: 119-126. [Full Text]
Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2001). Use of cephalosporins during pregnancy and in the presence of congenital abnormalities: a population-based, case-control study. American Journal of Obstetrics and Gynecology. 184: (6). 1289-1296. [Abstract]
Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2001). A population-based case-control teratologic study of ampicillin treatment during pregnancy. American Journal of Obstetrics and Gynecology. 185: (1). 140-147. [Abstract]
Czeizel AE, Rockenbauer M, Sorensen HT and Olsen J (2001). The teratogenic risk of trimethoprim-sulfonamides: a population-based case-control study. Reproductive Toxicology. 15: 637-646. [Full Text]
Czeizel AE, Sorensen HT, Rockenbauer M and Olsen J (2001). A population-based case-control teratologic study of nalidixic acid. International Journal of Gynecology and Obstetrics. 73: 221-228. [Abstract]
Garne E (2001). Perinatal mortality rates can no longer be used for comparing quality of perinatal health services between countries. Paediatric & Perinatal Epidemiology. 15: (3). 315-316.
Martinez-Frias M-L (2001). Heterotaxia as an outcome of maternal diabetes: an epidemiological study. American Journal of Medical Genetics Part A. 99: (2). 142-146. [Full text]
Martinez-Frias M-L (2001). Editorial comment: approaches to the analysis of infants with multiple congenital anomalies. American Journal of Medical Genetics Part A. 101: (1). 33-35. [Full text]
Martinez-Frias M-L and Rodriguez-Pinilla E (2001). Epidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: no evidence of human teratogenicity. Teratology. 63: 38-41.
Martinez-Frias M-L, Bermejo E and Frias JL (2001). The VACTERL association: lessons from the Sonic Hedgehog pathway. Clinical Genetics. 60: (5). 397-398. [Full text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E and Frias JL (2001). Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. American Journal of Medical Genetics Part A. 99: (4). 261-269. [Full text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E and Prieto L (2001). Periconceptional exposure to contraceptive pills and risk for Down Syndrome. Journal of Perinatology. 21: (5). 288-292. [Full text]
Martinez-Frias M-L, Garcia-Mazario MJ, Feito-Caldas C, Conejero-Gallego MP, Bermejo E and Rodriguez-Pinilla E (2001). High maternal fever during gestation and severe congenital limb disruptions. American Journal of Medical Genetics Part A. 98: (2). 201-203. [Full text]
Martinez-Frias M-L, Rodriguez L, Bermejo E, Lopez F and Rodriguez-Pinilla E (2001). It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor. American Journal of Medical Genetics Part A. 101: (1). 80 [Full text]
Norgard B, Czeizel AE, Rockenbauer M, Olsen J and Sorensen HT (2001). Population-based case control study of the safety of sulfasalazine use during pregnancy. Alimentary Pharmacology & Therapeutics. 15: 483-486. [Full Text]
Sorensen HT, Czeizel AE, Rockenbauer M, Steffensen FH and Olsen J (2001). The risk of limb deficiencies and other congenital abnormalities in children exposed in utero to calcium channel blockers. Acta Obstetricia et Gynecologica Scandinavica. 80: 397-401. [Full Text]
Szunyogh M, Metneki J, Siffel C and Czeizel AE (2001). Increase in the prevalence of Down syndrome in Hungary in the 1990s. Reproductive Toxicology. 15: 727-728. [Full Text]
Barisic I and Clementi M (2000). Evaluation of routine prenatal ultrasound detection of fetal gastrointestinal malformations: European multicentric study. Ultrasound in Obstetrics and Gynecology. 16: (1). 61
Boyd P, Crocker AJM, Jedderies M and Chamberlain P (2000). Screening for Down's Syndrome. British Medical Journal. 321: (7263). 762
Cornel M (2000). Wealth and health in relation to birth defects mortality. Journal of Epidemiology & Community Health. 54: 644
Howe DT, Gornall R, Wellesley D, Boyle T and Barber J (2000). Six year survey of screening for Down's syndrome by maternal age and mid-trimester ultrasound scans. British Medical Journal. 320: 606-610. [Full Text]
Irgens A, Kruger K, Skorve AH and Irgens L (2000). Birth defects and paternal occupational exposure. Hypotheses tested in a record linkage based dataset. Acta Obstetricia et Gynecologica Scandinavica. 79: (6). 465-470. [Full text]
Irgens L (2000). The Medical Birth Registry of Norway. Epidemiological research and surveillance throughout 30 years. Acta Obstetricia et Gynecologica Scandinavica. 79: (6). 435-439. [Full text]
Martinez-Frias M-L, Bermejo E and Frias JL (2000). Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects. American Journal of Medical Genetics Part A. 90: (3). 246-249. [Full text]
Martinez-Frias M-L, Bermejo E and Rodriguez-Pinilla E (2000). Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology. American Journal of Medical Genetics Part A. 92: (1). 13-18. [Full text]
Martinez-Frias M-L, Bermejo E and Rodriguez-Pinilla E (2000). Anal atresia, vertebral, genetial and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations. American Journal of Medical Genetics Part A. 95: (2). 169-173. [Full text]
Martinez-Frias M-L, Bermejo E, Rodriguez-Pinilla E and Prieto L (2000). Case-control study of maternal occupation as hairdresser during pregnancy and congenital defects. Environmental Epidemiology & Toxicology. 2: 20-23.
Martinez-Frias M-L, Castilla E, Bermejo E, Prieto L and Orioli I (2000). Isolated small intestinal atresias in Latin America and Spain: epidemiological analysis. American Journal of Medical Genetics Part A. 93: (5). 355-359. [Full text]
Martinez-Frias M-L, Villa A, Asero de Pablo R, Ayala A, Calvo MJ, Bermejo E and Rodriguez L (2000). Limb deficiencies in infants with Trisomy 13. American Journal of Medical Genetics Part A. 93: (4). 339-341. [Full text]
Prieto L and Martinez-Frias M-L (2000). Case-control studies using only malformed infants who were prenatally exposed to drugs. What do the results mean? (Letter to the Editor). Teratology. 62: 5-7.
Prieto L and Martinez-Frias M-L (2000). Response to "What kind of controlsd to use in case control studies of malformed infants: recall bias versus teratogen nonspecificity bias" (Letter to the Editor). Teratology. 62: 372
Reefhuis J, de Walle H, de Jong-van den Berg L, Cornel M and EuroMAP-group (2000). Additional information from parental questionnaires and pharmacy records for registration of birth defects. European Journal of Epidemiology. 16: (329). 336 [Full text]
Rijinders L, Boonstra A, Groothoff J, Cornel M and Eisma W (2000). Lower limb deficient children in the Netherlands: epidemiological aspects. Prosthetics and Orthotics International. 24: (1). 13-18. [Full text]
Rodriguez L, Sanchis A, Villa A, Canovas A, Peris S, Estivalis M, Pons S and Martinez-Frias M-L (2000). Ring chromosome 7 and sacral agenesis. American Journal of Medical Genetics Part A. 94: (1). 52-58. [Full text]
Rodriguez-Pinilla E, Arroyo Carrera I, Fondevilla J, Garcia MJ and Martinez-Frias M-L (2000). Prenatal Exposure to valproic acid during pregnancy and limb deficiences: a case-control study. American Journal of Medical Genetics Part A. 90: (5). 376-381. [Full text]
van der Pal-de Bruin KM, de Walle H, Jeeninga W, de Rover C, Cornel M, de Jong-van den Berg L, Schouten J, Brand R and Buitendijk SE (2000). The Dutch "folic acid campaign" - have the goals been achieved?. Paediatric & Perinatal Epidemiology. 14: (2). 111-117. [Full text]
Villa A, Galan-Gomez E, Rodriguez L, Hernandex-Rastrollo R, Martinez-Tallo ME and Martinez-Frias M-L (2000). Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3). American Journal of Medical Genetics Part A. 90: (5). 369-375. [Full text]
Vollset S E and Lande B (2000). Knowledge and attitudes of folate, and use of dietary supplements among women of reproductive age in Norway 1998. Acta Obstetricia et Gynecologica Scandinavica. 79: (6). 513-519. [Full text]
White SM, Chamberlain P, Hitchcock R, Sullivan PB and Boyd P (2000). Megacystic-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature. Prenatal Diagnosis. 20: 697-700. [Full text]
Clarke S, Dykes E, Chapple J and Abramsky L (1999). Congenital abdominal wall defects in the United Kingdom. British Medical Journal. 318: 733
Clementi M and Bianca S (1999). Down syndrome and parity. Community Genetics. 2: 18-22.
Garne E (1999). Congenital diaphragmatic hernia - a European population based study of epidemiology, prenatal diagnosis and mortality. Prenatal and Neonatal Medicine. 4: 441-447.
Garne E and Bergman U (1999). Benzodiazepine use in pregnancy and major malformations or oral clefts - induced abortions should be included. British Medical Journal. 319: 918
Goujard J (1999). Clusters of birth defects: emergency and management. A review of some publications. European Journal of Epidemiology. 15: (9). 853-862. [Full Text]
Harding LJ, Malone PSJ and Wellesley D (1999). Antenatal minimal hydronephrosis: is its follow-up an unnecessary cause of concern?. Prenatal Diagnosis. 19: 701-705. [Full Text]
Reefhuis J and de Walle H (1998). Maternal smoking and deformities of the foot: results of the EUROCAT study. American Journal of Public Health. 88: 1554-1555.
Stone D and Rimaz S (1998). Prevalence of congenital anterior abdominal wall defects in the United Kingdom: comparison of regional registers. British Medical Journal. 317: 1118-1119.
Wellesley D, Moore I, Heard M and Keeton B (1998). Two cases of warfarin embryopathy: a re-emergence of this condition?. British Journal of Obstetrics and Gynaecology. 105: 805-806. [Full Text]
Sturkenboom M, Stricker B, de Jong-van den Berg L, Cornel M and Wesseling H (1995). The role of pharmacists in the recruitment of a cohort for postmarketing surveillance. Pharmacy World and Science. 17: (4). 126-132.
Cordier S, Ha M-C, Ayme S and Goujard J (1992). Maternal occupational exposure and congenital malformations. Scandinavian Journal of Work, Environment and Health. 18: 11-17.
Martinez-Frias M-L and Bermejo E (1992). Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis. American Journal of Medical Genetics Part A. 42: 643-646.
Cornel M, de Jong-van den Berg L and Ten Kate L (1989). Further Evidence of an Association Between Ovulation Induction and Neural Tube Defects. Teratology. 40: 278
Cornel M, Dukes M, Mayboom R, Garbis H and Peters R (1989). Ovulation Induction and Neural Tube Defects. The Lancet. 17: 1386
Cornel M, Ten Kate L and Te Meerman G (1989). Ovulation Induction, In-Vitro Fertilisation and Neural Tube Defects. The Lancet. 23: 1530
Stone D (1989). Responses to Chernobyl. Communication of Medicine. 11: 261
Mori MA, Gomez-Sabrido F, Diaz de Bustamante A, Pinel I and Martinez-Frias M-L (1988). De novo 10q23 interstitial deletion. American Journal of Medical Genetics Part A. 25: 209-210.
Pinel I, Diaz de Bustamante A, Urioste M, Feliz V and Martinez-Frias M-L (1988). An unusual variant of chromosome 16. Two new cases. Human Genetics. 80: 194
Urioste M, Valcarcel E, Gomez MA, Pinel I, Garcia de Leon R, Diaz de Bustamante A, Tebar R and Martinez-Frias M-L (1988). Holoprosencephaly and Trisomy 21 in a child born to a nondiabetic mother. American Journal of Medical Genetics Part A. 30: 925-928.
Cordier S and Goujard J (1987). Methodology Issues for the Study of the Risk Associated with Occupational Exposure to Potential Teratogens, In: EUROCAT Report 2. EUROCAT Central Registry, Universitie Catholique Louvain.
Mori MA, Gomar JL, Diaz de Bustamante A, Ananias A, Pinel I and Martinez-Frias M-L (1987). Partial Duplication 16p Resulting from a 3:1 Segregation of a MAternal Reciprocal Translocation. American Journal of Medical Genetics Part A. 26: 203-206.
Fullana A, Garcia-Frias E, Martinez-Frias M-L, Razquin S and Quero J (1986). Caudal Deficiency and Asplenia Anomalies in Sibs. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 2: 23-29.
Barbujani G and Calzolari E (1985). Performance of Three Techniques for the Surveillance of Congenital Malformations. A Computer Simulation Test, In: Registration of Congenital Anomalies in EUROCAT Centres, 1979-1983. Louvain-la-Neuve, Cabay. [Article]
Mori MA, Huertas H, Pinel I, Giralt P and Martinez-Frias M-L (1985). Trisomy 13 in the Child of Two Carriers of a 13/15 Translocation. American Journal of Medical Genetics Part A. 20: 17-20.
Non Registry Publications
Bourdial H, Jamal-Bey K, Edmar A, Caillet D, Wuillai F, Bernede-Bauduin C, Boumahni B, Robillard P-Y, Kauffmann E, Laffitte A, Touret Y, Cuillier F, Fourmaintraux A, Alessandri J-L, Gerardin P and Randrianaivo-Ranjatoelina H (2012). Congenital heart defects in La Reunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies survey. Cardiology in the Young. 22: (5). 547-558. [Full Text]
Mastroiacovo P, Maraschini A, Leoncini E, Mossey P, Bower C, Castilla E, Feldkamp M, Halliday J and Little J (2011). Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC). Cleft Palate-Craniofacial Journal. 48: (1). 66-81. [Abstract]
Romanelli V, Belinchon A, Benito-Sanz S, Martinez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, Garcia-Minaur S, Fernandez L and Meneses H (2010). CDKN1C (p57Kip2) analysis with Beckwith-Wiedemann Syndrome (BWS) patients: genotype-phenotype correlations, novel mutations and polymorphisms. American Journal of Medical Genetics Part A. 152A: 1390-1397. [Full Text]
Acs N, Banhidy F and Horvath-Puho E (2008). Pregnancy complications and delivery outcomes in pregnant women with severe migrane. Obstetrical and Gynecological Survey. 63: (2). 79-81. [Abstract]
Galan E, Sanchez EB, Arias-Castro S and Cardesa-Garcia JJ (2007). Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martinez-Frias syndrome. European Journal of Medical Genetics. 50: 144-148. [Full Text]
Dobson R (2006). Rise in maternal age has led to increase in pregnancies affected by Down's syndrome. British Medical Journal. 332: 1234 [Full Text]
Della Monica M, Nazzaro A, Lonardo F, Ferrara G and Di Blasi A (2005). Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunt-like' image and review of the literature. Prenatal Diagnosis. 25: 394-397. [Full Text]
Kalaydjieva L, Lochmuller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Mullner-Eidenbock A, Okuda T, Rasic VM, Santos M, Talim B, Vilchez J and Walter M (2005). 125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2005, Naarden, The Netherlands. Neuromuscular Disorders. 15: 65-71. [Full Text]
Katalinic A, Rosch C and Ludwig M (2004). Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study. Fertility and Sterility. 81: (6). 1604-1616. [Full Text]
Siero F, van Diem M, Voorrips R and Willemsen M (2004). Periconceptional smoking: an exploratory study of determinants of change in smoking behaviour among women in the fertile age range. Health Education Research. 19: (4). 418-429. [Full Text]
DADA Study Group (2002). Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenatal Diagnosis. 22: 562-566.
Di Tanna GL and Rosano A (2002). Prevalence of gastroschisis at birth: retrospective study. British Medical Journal. 352: 1389-1390.
ICBDMS (2001). Scientific session of the 28th annual meeting of the International Clearinghouse for Birth Defects Monitoring System. Reproductive Toxicology. 15: 723-728.
Lorente C and Cordier S (2000). Tobacco and alcohol use during pregnancy and risk of oral clefts. American Journal of Public Health. 90: 415-419.
Lorente C and Cordier S (2000). Maternal occupation risk factors for oral clefts. Scandinavian Journal of Work, Environment and Health. 26: (2). 137-144.
Alexander F (1999). Clusters and clustering of childhood cancer: a review. European Journal of Epidemiology. 15: (9). 847-852. [Full Text]
Drijver M and Woudenberg F (1999). Cluster management and the role of concerned communities and the media. European Journal of Epidemiology. 15: (9). 863-869. [Full Text]
Mansfield C, Hopfer S, Mateau M and DADA Study Group (1999). Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly and Turner and Klinefelter syndromes: a systematic literature review. Prenatal Diagnosis. 19: 808-812.
Mastroiacovo P and Castilla E (1999). Congenital malformations in twins: an international study. American Journal of Medical Genetics Part A. 83: 117-124. [Full Text]
Rosano A and Smithells R (1999). Time trends in neural tube defects prevalence in relation to preventive strategies: an international study. Journal of Epidemiology & Community Health. 53: (10). 630-635.
Pexieder T and Bloch D (1994). Congenital anomalies in Switzerland: problems and solutions in data collection and their European integration experienced by EUROCAT (Switzerland). Sozial-und Praventivmedizin. 39: 43-46.
Dutton S, Owens J and Harris F (1991). Ascertainment of Congenital Malformations: A Comparative Study of Two Systems. Journal of Epidemiology & Community Health. 45: 294-298.
Dutton S and Harris F (1989). Health Effects of Chernobyl. British Medical Journal. 298: 119
Ten Kate L (1987). Epidemiology of Avoidable Birth defects, In: EUROCAT Report 2. EUROCAT Central Registry, Universitie Catholique Louvain.
Bosi G and Scorrano M (1986). Progetto EUROCAT per la Patologia Cardiovascolare Malformativa. Acta Pædiatrica Latina. 39: (4). 317-328.
Hamilton F and Richardson P (1985). Evaluation of the Use of Multiple Sources of Information for Registration of Congenital Anomalies in Glasgow. Registration of Congenital Anomalies in EUROCAT Centres 1979-1983. Louvain-la-Neuve, Cabay.
Pexieder T and Baumann H (1985). Prospective Recording of Events During Pregnancy and Early Childhood Using a Pregnancy Pass: Results of a Pilot Study in Zurich. Registration of Congenital Anomalies in EUROCAT Centres 1979-1983. Louvain-la-Neuve, Cabay.
Swagemakers M and Ten Kate L (1985). Alleged Epidemics of Birth Defects in Circumscribed Areas. A Possible Protocol, In: Registration of Congenital Anomalies in EUROCAT Centres, 1979-1983. Louvain-la-Neuve, Cabay.