Publications (922)
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Genetic syndromes mimic congenital infections
Genetic syndromes mimic congenital infections
Sanchis A, Cervero L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martinez-Frias M-L
Journal of Pediatrics, 2005 , 146: 701 - 705
Subjects: Genetics and Syndromes -
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation
Rimessi P, Gualandi F, Duprez L, Spitali P, Neri G, Merlini L, Calzolari E, Muntoni F, Ferlini A
American Journal of Medical Genetics Part A, 2005 , 132A: 391 - 394
Subjects: Genetics and Syndromes, Prenatal Screening & Diagnosis -
Growth deficiency, facial anomalies, and brachydactyly (Frias syndrome): a second family
Growth deficiency, facial anomalies, and brachydactyly (Frias syndrome): a second family
Martinez-Frias M-L, Toral JF, Lopez-Grondona, Mendioroz J, Bermejo E
American Journal of Medical Genetics Part A, 2005 , 137A: 288 - 291
Subjects: Genetics and Syndromes -
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
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
Salvador J, Borrell A, Lladonosa A
Prenatal Diagnosis, 2005 , 25: 991 - 996
Subjects: Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality -
Increasing total prevalence rate of cases with Down syndrome in Hungary
Increasing total prevalence rate of cases with Down syndrome in Hungary
Metneki J, Czeizel AE
European Journal of Epidemiology, 2005 , 20: 525 - 535
Subjects: Prevalence & Perinatal Mortality
Anomalies: Down Syndrome -
Indicators of mancozeb exposure in relation to thyroid cancer and neural tube defects in farmers' families
Indicators of mancozeb exposure in relation to thyroid cancer and neural tube defects in farmers' families
Nordby K-C, Andersen A, Irgens L, Kristensen P
Scandinavian Journal of Work, Environment and Health, 2005 , 31: (2) 89 - 96
Subjects: Prevention & Risk Factors
Anomalies: Neural Tube Defects -
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
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
Chevrier C, Perret C, Bahuau M, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Cordier S
Birth Defects Research (Part A), 2005 , 73: 114 - 122
Subjects: Genetics and Syndromes, Prevention & Risk Factors
Anomalies: Orofacial clefts -
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population
Ghassibe M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M
European Journal of Human Genetics, 2005 , 13: 1239 - 1242
Subjects: Genetics and Syndromes
Anomalies: Orofacial clefts -
International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna Region, Italy
International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna Region, Italy
Calzolari E, Baroncini A
Community Genetics, 2005 , 8: (2) 122 - 129
Subjects: Genetics and Syndromes -
International Retrospective Cohort Study of Neural Tube Defects in relation to folic acid recommendations: are the recommendations working?
International Retrospective Cohort Study of Neural Tube Defects in relation to folic acid recommendations: are the recommendations working?
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, Goujard J
British Medical Journal, 2005 , 330: (7491) 571
Subjects: Folic Acid, Prevention & Risk Factors
Anomalies: Neural Tube Defects