文献

J-GLOBAL ID：201102207227815454   整理番号：11A1679901

早発性卵巣機能不全を伴う患者4人におけるX;常染色体平衡転座の切断点決定

Breakpoint determination of X; autosome balanced translocations in four patients with premature ovarian failure

著者 (18件)： NISHIMURA-TADAKI Akira (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  WADA Takahito (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  BANO Gul (St George’s Univ. London, London, GBR) ,  GOUGH Karen (Mater Pathology, Mater Health Serv., Queensland, AUS) ,  WARNER Janet (Mater Pathology, Mater Health Serv., Queensland, AUS) ,  KOSHO Tomoki (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  ANDO Noriko (Yokohama Municipal Citizens Hospital, Yokohama, JPN) ,  HAMANOUE Haruka (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  SAKAKIBARA Hideya (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  NISHIMURA Gen (Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo, JPN) ,  TSURUSAKI Yoshinori (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  DOI Hiroshi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MIYAKE Noriko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  WAKUI Keiko (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  SAITSU Hirotomo (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  FUKUSHIMA Yoshimitsu (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  HIRAHARA Fumiki (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MATSUMOTO Naomichi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
資料名： Journal of Human Genetics  (Journal of Human Genetics)
巻： 56  号： 2  ページ： 156-160  発行年： 2011年02月 
JST資料番号： Z0756A  ISSN： 1434-5161  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 早発性卵巣機能不全(POF)は,年齢40歳前の無月経および血...

シソーラス用語： *卵巣疾患 ,...
準シソーラス用語： COL4A6 ,...

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分類 (2件)： 婦人科・産科の臨床医学一般  (GS01030W) ,  分子遺伝学一般  (EC02010J)

引用文献 (23件)：

• COULAM, C. B. Incidence of premature ovarian failure. Obstet. Gynecol. 1986, 67, 604-606
• THERMAN, E. The critical region on the human Xq. Hum. Genet. 1990, 85, 455-461
• SCHLESSINGER, D. Genes and translocations involved in POF. Am. J. Med. Genet. 2002, 111, 328-333
• RIZZOLIO, F. Chromosomal rearrangements in Xq and premature ovarian failure : mapping of 25 new cases and review of the literature. Hum. Repord. 2006, 21, 1477-1483
• SALA, C. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics. 1997, 40, 123-131

タイトルに関連する用語 (6件)： 早発性卵巣機能不全 ,  患者 ,  常染色体 ,  平衡 ,  転座 ,  切断点