European Platform on Rare Disease Registration

Publications (857)

Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study.

Banhidy F, Dakhlaoui A, Puho EH, Czeizel AE
Congenital Anomalies, 2011 , 51: 80 - 86
Subjects: Folic Acid, Prevention & Risk Factors

Measurement of nuchal translucency for prenatal screening of congenital heart defects: a population-based evaluation

Jouannic J-M, Thieulin A-C, Bonnet D, Houyel L, Lelong N, Goffinet F, Khoshnood B
Prenatal Diagnosis, 2011 , 31: 1264 - 1269
Subjects: Prenatal Screening & Diagnosis
Anomalies: Congenital Heart Anomalies

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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, et al
Nature, 2011 , 478: (7367) 97 - 102
Subjects: Genetics and Syndromes

Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study

Boyd P, Tonks A, Rankin J, Rounding C, Wellesley D, Draper E
Journal of Medical Screening, 2011 , 18: (1) 2 - 7
Subjects: Prenatal Screening & Diagnosis

Paper 1: The EUROCAT network: organization and processes

Boyd P, Barisic I, Haeusler M, Loane M, Garne E, Dolk H
Birth Defects Research (Part A), 2011 , 91: 2 - 15
Subjects: EUROCAT Overview, Surveillance Methodology

Paper 2: EUROCAT public health indicators for congenital anomalies in Europe

Khoshnood B, Greenlees R, Loane M, Dolk H and EUROCAT Project Management Committee and EUROCAT Working Group
Birth Defects Research (Part A), 2011 , 91: S16 - S22
Subjects: EUROCAT Overview, Surveillance Methodology

Paper 3: EUROCAT Data Quality Indicators for population-based registries of congenital anomalies

Loane M, Dolk H, Garne E, Greenlees R and EUROCAT Working Group
Birth Defects Research (Part A), 2011 , 91: S23 - S30
Subjects: EUROCAT Overview, Surveillance Methodology

Paper 4: EUROCAT Statistical Monitoring: Identification of ten year trends of congenital anomalies in Europe

Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J and EUROCAT Working Group
Birth Defects Research (Part A), 2011 , 91: S31 - S43
Subjects: Clusters and Trends, Prevalence & Perinatal Mortality, Surveillance Methodology

Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases

Garne E, Dolk H, Loane M, Wellesley D, Barisic I, Calzolari E, Densem J
Birth Defects Research (Part A), 2011 , 91: S44 - S50
Subjects: Surveillance Methodology

Paper 6: EUROCAT member registries: organization and activities

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, Wertelecki W
Birth Defects Research (Part A), 2011 , 91: S51 - S100
Subjects: EUROCAT Overview, Surveillance Methodology