Art

J-GLOBAL ID：201102207227815454   Reference number：11A1679901

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

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

Author (18)： 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)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 56  Issue： 2  Page： 156-160  Publication year： Feb. 2011 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *ovarian disease ,...
Semi thesaurus term： COL4A6 ,...

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JST classification (2)： Clinical gynecology and obstetrics in general  (GS01030W) ,  Molecular genetics in general  (EC02010J)

Reference (23)：

• 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

Terms in the title (6)： 早発性卵巣機能不全 ,  患者 ,  常染色体 ,  平衡 ,  転座 ,  切断点