Publications (876)
-
Folic acid: a public health challenge (letter to the Editor)
Folic acid: a public health challenge (letter to the Editor)
Martinez-Frias M-L
The Lancet, 2006 , 367: (9528) 2057
Subjects: Folic Acid, Prevention & Risk Factors -
Lethal Congenital Contracture Syndrome (LCCS) and other lethal arthrogryposes in Finland - an epidemiological study
Lethal Congenital Contracture Syndrome (LCCS) and other lethal arthrogryposes in Finland - an epidemiological study
Pakkasjarvi N, Ritvanen A, Herva R, Peltonen L, Kestila M, Ignatius J
American Journal of Medical Genetics Part A, 2006 , 140A: 1834 - 1839
Subjects: Genetics and Syndromes -
Maternal age-specific fetal loss rates in Down syndrome pregnancies
Maternal age-specific fetal loss rates in Down syndrome pregnancies
Savva G, Morris J, Mutton D, Alberman E
Prenatal Diagnosis, 2006 , 2006: (26) 499 - 504
Subjects: Prevalence & Perinatal Mortality, Prevention & Risk Factors
Anomalies: Down Syndrome -
Maternal polymorphisms 677C-t and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down Syndrome?
Maternal polymorphisms 677C-t and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down Syndrome?
Martinez-Frias M-L, Perez P, Desviat LR, Castro M, Leal F, Rodriguez-Pinilla E, Mansilla E, Martinez-Fernandez ML, Bermejo E, Rodriguez L, Prieto D, Ugarte M
American Journal of Medical Genetics Part A, 2006 , 140A: (9) 987 - 997
Subjects: Genetics and Syndromes
Anomalies: Down Syndrome -
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Dery C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martinez-Fernandez ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JBP, Tacke A, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP
Nature Genetics, 2006 , 38: (8) 910 - 916
Subjects: Genetics and Syndromes -
National Register of Rare Diseases: congenital malformations and folic acid
National Register of Rare Diseases: congenital malformations and folic acid
Pierini A, Bianchi F, Salerno P, Taruscio D
Rapporti ISTISAN 06/34, 2006 1 - 114
Subjects: Folic Acid, Prevention & Risk Factors -
Outcome of antenatally suspected congenital cystic adenomatoid malformation of the lung: 10 years' experience 1991-2001
Outcome of antenatally suspected congenital cystic adenomatoid malformation of the lung: 10 years' experience 1991-2001
Calvert JK, Boyd P, Chamberlain P, Said S, Lakhoo K
Archives of Disease in Childhood - Fetal and Neonatal Edition, 2006 , 91: F26 - F28
Subjects: Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality
Anomalies: Respiratory -
Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis
Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis
Bianca S, Bartoloni G, Auditore S, Reale A, Tetto C, Ingegnosi C, Pirruccello B, Ettore G
Cardiology, 2006 , 105: 37 - 40 -
Rates of Down Syndrome at the Upper extreme of maternal age: considerations and recommendations in analysis [comment]
Rates of Down Syndrome at the Upper extreme of maternal age: considerations and recommendations in analysis [comment]
Morris J, Mutton D, Alberman E
Prenatal Diagnosis, 2006 , 26: (11) 1091 -
Rise in maternal age has led to increase in pregnancies affected by Down's syndrome
Rise in maternal age has led to increase in pregnancies affected by Down's syndrome
Dobson R
British Medical Journal, 2006 , 332: 1234
Subjects: Prevalence & Perinatal Mortality, Prevention & Risk Factors
Anomalies: Down Syndrome