Publications (922)
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Special Report: The Status of Health in the European Union: Congenital Malformations
Special Report: The Status of Health in the European Union: Congenital Malformations
EUROCAT
EUROCAT Central Registry, University of Ulster, 2009
Subjects: Prevalence & Perinatal Mortality
Anomalies: Congenital Heart Anomalies -
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
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
Morris J, Alberman E
British Medical Journal, 2009 , 339: (7731) b3794
Subjects: Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality
Anomalies: Down Syndrome -
What is the "primary" prevention of congenital anomalies?
What is the "primary" prevention of congenital anomalies?
Dolk H and EUROCAT Project Management Committee
The Lancet, 2009 , 372: 378
Subjects: Prevention & Risk Factors -
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
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, Ruiz-Perez VL
Human Mutation, 2009 , 30: 1667 - 1675
Subjects: Genetics and Syndromes
Anomalies: Chromosomal (other than Down Syndrome) -
A new small supernumary marker chromsome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man
A new small supernumary marker chromsome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man
Rodriguez L, Liehr T, Martinez-Fernandez ML, Lara A, Torres A, Martinez-Frias M-L
Molecular Cytogenetics, 2008 , 1: 4
Subjects: Genetics and Syndromes -
A population-based case-control teratologic study of promethazine use during pregnancy
A population-based case-control teratologic study of promethazine use during pregnancy
Bartfai Z, Kocsis J, Puho EH, Czeizel AE
Reproductive Toxicology, 2008 , 25: (2) 276 - 285
Subjects: Medication During Pregnancy, Prevention & Risk Factors -
Antiepileptic drug use, folic acid supplementation, and congenital abnormalities: a population-based case-control study
Antiepileptic drug use, folic acid supplementation, and congenital abnormalities: a population-based case-control study
Kjaer D, Puho EH, Christensen J, Vestergaard M, Czeizel AE, Sorensen HT, Olsen J
British Journal of Gynaecology, 2008 , 115: 98 - 103
Subjects: Folic Acid, Medication During Pregnancy, Prevention & Risk Factors -
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
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
Puho EH, Czeizel AE, Acs N, Banhidy F
Congenital Anomalies, 2008 , 48: 126 - 136
Subjects: Other -
CARIS Review: 10 years of reporting
CARIS Review: 10 years of reporting
CARIS
CARIS, Singleton Hospital, 2008
Subjects: Surveillance Methodology -
Cerebral Palsy and Congenital Malformations
Cerebral Palsy and Congenital Malformations
Garne E, Cans C, Dolk H, Holst S, Krageloh-Mann I, SCPE Collaborative Group
European Journal of Paediatric Neurology, 2008 , 12: 82 - 88
Subjects: Survival & Neuro Development Outcomes