Publications (922)
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Hirschsprung's disease prevalence in Europe: a register based study
Hirschsprung's disease prevalence in Europe: a register based study
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, Rankin J
Birth Defects Research Part A Clinical and Molecular Teratology, 2014
Subjects: Genetics and Syndromes, Prevalence & Perinatal Mortality
Anomalies: Digestive System Anomalies -
Holt Oram syndrome: a registry-based study in Europe
Holt Oram syndrome: a registry-based study in Europe
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, Dolk H
Orphanet Journal of Rare Diseases, 2014 , 9: 156 - 165
Anomalies: Congenital Heart Anomalies, Limb Anomalies -
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
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
Baardman ME, du Marchie Sarvaas GJ, de Walle H, Fleurke-Rozema H, Snijders R, Ebels T, Bergman JEH, Bilardo CM, Berger RMF, Bakker M
Ultrasound in Obstetrics and Gynecology, 2014 , 44: 58 - 63
Subjects: Prevalence & Perinatal Mortality
Anomalies: Congenital Heart Anomalies -
Major Congenital Anomalies in Babies Born with Down Syndrome: A EUROCAT Population-Based Registry Study
Major Congenital Anomalies in Babies Born with Down Syndrome: A EUROCAT Population-Based Registry Study
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, Stoianova S
American Journal of Medical Genetics Part A, 2014
Anomalies: Down Syndrome -
Meckel-Gruber syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Meckel-Gruber syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
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, Verellen-Dumoulin C
European Journal of Human Genetics, 2014 , epub:
Subjects: Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality
Anomalies: Limb Anomalies, Urinary Anomalies -
Neural tube defects in the Republic of Ireland in 2009-2011
Neural tube defects in the Republic of Ireland in 2009-2011
McDonnell R, Delany V, O'Mahony M, Mullaney C, Lee B, Turner MJ
Journal of Public Health, 2014 , March: 1 - 7
Subjects: Folic Acid, Prevention & Risk Factors
Anomalies: Neural Tube Defects -
Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins
Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins
Daud A, Bergman JEH, Bakker M, Wang, H, de Walle H, Plosch T, Wilffert B
Pharmacogenomics, 2014 , 15: (7) 1029 - 1041
Subjects: Medication During Pregnancy, Prevention & Risk Factors -
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe
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, Garne E
Prenatal Diagnosis, 2014 , 34: 1 - 6
Subjects: Genetics and Syndromes, Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality, Prevention & Risk Factors
Anomalies: Urinary Anomalies -
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549,931 births in Tuscany
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549,931 births in Tuscany
Seravalli V, Pierini A, Bianchi F, Giglio S, Vellucci F, Cariati E
Journal of Maternal-Fetal and Neonatal Medicine, 2014
Subjects: Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality
Anomalies: Limb Anomalies -
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening
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, Dolk H
British Journal of Obstetrics and Gynaecology, 2014
Subjects: Genetics and Syndromes, Prevalence & Perinatal Mortality, Prevention & Risk Factors
Anomalies: Down Syndrome