Art

J-GLOBAL ID：201002241312736977   Reference number：10A0954917

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

ゴナドトロピン放出ホルモン単独欠損の主働遺伝子的基盤

Author (17)： SYKIOTIS Gerasimos P. (Massachusetts General Hospital, MA) ,  PLUMMER Lacey (Massachusetts General Hospital, MA) ,  HUGHES Virginia A. (Massachusetts General Hospital, MA) ,  AU Margaret (Massachusetts General Hospital, MA) ,  DURRANI Sadia (Massachusetts General Hospital, MA) ,  NAYAK-YOUNG Sadhana (Massachusetts General Hospital, MA) ,  DWYER Andrew A. (Massachusetts General Hospital, MA) ,  QUINTON Richard (Royal Victoria Infirmary, Newcastle-upon-Tyne, GBR) ,  QUINTON Richard (Univ. Newcastle-upon-Tyne, Newcastle-upon-Tyne, GBR) ,  HALL Janet E. (Massachusetts General Hospital, MA) ,  GUSELLA James F. (Harvard Medical School, MA) ,  SEMINARA Stephanie B. (Massachusetts General Hospital, MA) ,  SEMINARA Stephanie B. (Harvard Medical School, MA) ,  CROWLEY William F., Jr. (Massachusetts General Hospital, MA) ,  CROWLEY William F., Jr. (Harvard Medical School, MA) ,  PITTELOUD Nelly (Massachusetts General Hospital, MA) ,  PITTELOUD Nelly (Harvard Medical School, MA)
Material： Proceedings of the National Academy of Sciences of the United States of America  (PNAS)
Volume： 107  Issue： 34  Page： 15140-15144  Publication year： Aug. 24, 2010 
JST Material Number： D0387A  ISSN： 0027-8424  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,  *endocrine disease ,  *gene ,  *hereditary disease ,  FGF receptor ,  tyrosine kinase ,  mutation ,  mutant ,  sex chromosome abnormality ,  hypogenitalism ,  urogenital abnormality ,  phenotype ,  pathophysiology ,  gene locus ,  nucleotide sequence ,  allele
Semi thesaurus term： FGFR1 ,  Kallmann Syndrome ,  *Isolated gonadotropin-releasing hormone deficiency ,  homozygosity ,  *Polygenic disorder ,  pathophysiology ,  mutant

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Terms in the title (3)： ゴナドトロピン放出ホルモン単独欠損 ,  主働遺伝子 ,  基盤