Art

J-GLOBAL ID：201502210288712179   Reference number：15A1281223

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

劣性遺伝性発達障害:4,125家系での遺伝子型と表現型の確率的なマッチングにより4つの劣性遺伝性発達障害を発見

Author (40)： AKAWI Nadia (Wellcome Trust Genome Campus, Hinxton, GBR) ,  MCRAE Jeremy (Wellcome Trust Genome Campus, Hinxton, GBR) ,  CLAYTON Stephen (Wellcome Trust Genome Campus, Hinxton, GBR) ,  FITZGERALD Tomas W (Wellcome Trust Genome Campus, Hinxton, GBR) ,  GERETY Sebastian S (Wellcome Trust Genome Campus, Hinxton, GBR) ,  JONES Wendy D (Wellcome Trust Genome Campus, Hinxton, GBR) ,  KING Daniel (Wellcome Trust Genome Campus, Hinxton, GBR) ,  LELLIOTT Chris (Wellcome Trust Genome Campus, Hinxton, GBR) ,  LORD Jenny (Wellcome Trust Genome Campus, Hinxton, GBR) ,  PIOMBO Virginia (Wellcome Trust Genome Campus, Hinxton, GBR) ,  PRIGMORE Elena (Wellcome Trust Genome Campus, Hinxton, GBR) ,  RAJAN Diana (Wellcome Trust Genome Campus, Hinxton, GBR) ,  SIFRIM Alejandro (Wellcome Trust Genome Campus, Hinxton, GBR) ,  SWAMINATHAN Ganesh J (Wellcome Trust Genome Campus, Hinxton, GBR) ,  WRIGHT Caroline F (Wellcome Trust Genome Campus, Hinxton, GBR) ,  BARRETT Jeffrey C (Wellcome Trust Genome Campus, Hinxton, GBR) ,  HURLES Matthew E (Wellcome Trust Genome Campus, Hinxton, GBR) ,  ANSARI Morad (Univ. Edinburgh, Edinburgh, GBR) ,  FITZPATRICK David R (Univ. Edinburgh, Edinburgh, GBR) ,  BALASUBRAMANIAN Meena (Sheffield Children’s National Health Serv. (NHS) Trust, Sheffield, GBR) ,  BLYTH Moira (Chapel Allerton Hospital, Leeds, GBR) ,  HOBSON Emma (Chapel Allerton Hospital, Leeds, GBR) ,  SMITH Audrey (Chapel Allerton Hospital, Leeds, GBR) ,  BRADY Angela F (London North West Healthcare NHS Trust, Harrow, GBR) ,  COLE Trevor (Birmingham Women’s Hospital, Birmingham, GBR) ,  MCMULLAN Dominic (Birmingham Women’s Hospital, Birmingham, GBR) ,  WHITWORTH James (Birmingham Women’s Hospital, Birmingham, GBR) ,  DESHPANDE Charu (Guy’s Hospital, London, GBR) ,  FOULDS Nicola (Princess Anne Hospital, Southampton, GBR) ,  FOULDS Nicola (Salisbury District Hospital, Salisbury, GBR) ,  FOULDS Nicola (Univ. Southampton, Southampton, GBR) ,  FRANCIS Richard (Univ. Pittsburgh, Pennsylvania, USA) ,  GABRIEL George (Univ. Pittsburgh, Pennsylvania, USA) ,  KLENA Nikolai (Univ. Pittsburgh, Pennsylvania, USA) ,  LO Cecilia W (Univ. Pittsburgh, Pennsylvania, USA) ,  GOODSHIP Judith (International Centre for Life, Newcastle upon Tyne, GBR) ,  JOSS Shelagh (Yorkhill Hospital, Glasgow, GBR) ,  O'REGAN Mary (Yorkhill Hospital, Glasgow, GBR) ,  KUMAR Ajith (Great Ormond Street Hospital, London, GBR) ,  LEES Melissa (Great Ormond Street Hospital, London, GBR)
Material： Nature Genetics  (Nat Genet)
Volume： 47  Issue： 11  Page： 1363-1369  Publication year： Nov. 2015 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,  pedigree ,  recessive ,  *hereditary disease ,  *mental disorder ,  genotype ,  phenotype ,  autosome ,  genome ,  nucleotide sequence ,  population(statistics) ,  probability
Semi thesaurus term： Exome ,  cohort ,  *Developmental Disabilities ,  likelihood

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (8)： 劣性遺伝 ,  発達障害 ,  家系 ,  遺伝子型 ,  表現型 ,  確率 ,  マッチング ,  発見