Publications (870)

  • 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