Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
- Author
- HOBBS, C. A1 ; SHERMAN, S. L2 ; PING YI3 ; HOPKINS, S. E1 ; TORFS, C. P4 ; HINE, R. J1 ; POGRIBNA, M3 ; ROZEN, R5 ; JAMES, S. J1
[1] Arkansas Center for Birth Defects Research and Prevention, Arkansas Children's Hospital and University of Arkansas for Medical Sciences, Little Rock, United States
[2] Department of Genetics, Emory University School of Medicine, Atlanta, United States
[3] Food and Drug Administration-National Center for Toxicological Research, Division of Biochemical Toxicology, Jefferson, AR, United States
[4] California Birth Defects Monitoring Program, Emeryville, CA, United States
[5] McGill University, Montreal Children's Hospital Research Institute, Montreal, Canada - Source
American journal of human genetics. 2000, Vol 67, Num 3, pp 623-630 ; ref : 1 p.3/4
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chromosome G21 Déterminisme génétique Facteur risque Folate Gène Homme Methylenetetrahydrofolate reductase (NADPH) Mongolisme Mère Métabolisme Pathogénie Polymorphisme Trisomie Aberration chromosomique Aneuploïdie Enzyme Maladie congénitale Oxidoreductases
- Keyword (en)
- Chromosome G21 Genetic determinism Risk factor Folate Gene Human Methylenetetrahydrofolate reductase (NADPH) Down syndrome Mother Metabolism Pathogenesis Polymorphism Trisomy Chromosomal aberration Aneuploidy Enzyme Congenital disease Oxidoreductases
- Keyword (es)
- Cromosoma G21 Determinismo genético Factor riesgo Folato Gen Hombre Methylenetetrahydrofolate reductase (NADPH) Mongolismo Madre Metabolismo Patogenia Polimorfismo Trisomía Aberración cromosómica Aneuploidía Enzima Enfermedad congénita Oxidoreductases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1486060
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1086/303055 
https://dx.doi.org/10.1086/303055
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:14:\"10.1086\/303055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"67\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"623\";s:8:\"\u0000*\u0000epage\";s:3:\"630\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"HOBBS\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. A\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"SHERMAN, S. L\";i:1;s:7:\"PING YI\";i:2;s:13:\"HOPKINS, S. E\";i:3;s:11:\"TORFS, C. P\";i:4;s:10:\"HINE, R. J\";i:5;s:11:\"POGRIBNA, M\";i:6;s:8:\"ROZEN, R\";i:7;s:11:\"JAMES, S. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:14:\"10.1086\/303055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"67\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"623\";s:8:\"\u0000*\u0000epage\";s:3:\"630\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"HOBBS\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. A\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"SHERMAN, S. L\";i:1;s:7:\"PING YI\";i:2;s:13:\"HOPKINS, S. E\";i:3;s:11:\"TORFS, C. P\";i:4;s:10:\"HINE, R. J\";i:5;s:11:\"POGRIBNA, M\";i:6;s:8:\"ROZEN, R\";i:7;s:11:\"JAMES, S. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:14:\"10.1086\/303055\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:14:\"10.1086\/303055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"67\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"623\";s:8:\"\u0000*\u0000epage\";s:3:\"630\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"HOBBS\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. A\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"SHERMAN, S. L\";i:1;s:7:\"PING YI\";i:2;s:13:\"HOPKINS, S. E\";i:3;s:11:\"TORFS, C. P\";i:4;s:10:\"HINE, R. J\";i:5;s:11:\"POGRIBNA, M\";i:6;s:8:\"ROZEN, R\";i:7;s:11:\"JAMES, S. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:14:\"10.1086\/303055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"67\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"623\";s:8:\"\u0000*\u0000epage\";s:3:\"630\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"HOBBS\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. A\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"SHERMAN, S. L\";i:1;s:7:\"PING YI\";i:2;s:13:\"HOPKINS, S. E\";i:3;s:11:\"TORFS, C. P\";i:4;s:10:\"HINE, R. J\";i:5;s:11:\"POGRIBNA, M\";i:6;s:8:\"ROZEN, R\";i:7;s:11:\"JAMES, S. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:14:\"10.1086\/303055\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2000\";s:9:\"\u0000*\u0000volume\";s:2:\"67\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"623\";s:8:\"\u0000*\u0000epage\";s:3:\"630\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:5:\"HOBBS\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. A\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:13:\"SHERMAN, S. L\";i:1;s:7:\"PING YI\";i:2;s:13:\"HOPKINS, S. E\";i:3;s:11:\"TORFS, C. P\";i:4;s:10:\"HINE, R. J\";i:5;s:11:\"POGRIBNA, M\";i:6;s:8:\"ROZEN, R\";i:7;s:11:\"JAMES, S. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:95:\"Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
