文献

J-GLOBAL ID：201502298832526663   整理番号：15A0456763

50名の患者のマイクロアレイ解析で1p36欠失症候群関連合併症の原因となる重要染色体領域が明らかとなる

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

著者 (35件)： SHIMADA Shino (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, Tokyo, JPN) ,  SHIMADA Shino (Dep. of Pediatrics, Tokyo Women’s Medical Univ., Tokyo, JPN) ,  SHIMOJIMA Keiko (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, Tokyo, JPN) ,  OKAMOTO Nobuhiko (Dep. of Medical Genetics, Osaka Medical Center and Res. Inst. for Maternal and Child Health, Izumi, JPN) ,  SANGU Noriko (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, Tokyo, JPN) ,  SANGU Noriko (Dep. of Oral and Maxillofacial Surgery, School of Medicine, Tokyo Women’s Medical Univ., Tokyo, JPN) ,  HIRASAWA Kyoko (Dep. of Pediatrics, Tokyo Women’s Medical Univ., Tokyo, JPN) ,  MATSUO Mari (Inst. of Medical Genetics, Tokyo Women’s Medical Univ., Tokyo, JPN) ,  IKEUCHI Mayo (Dep. of Pediatrics and Child Neurology, Oita Univ. Fac. of Medicine, Oita, JPN) ,  SHIMAKAWA Shuichi (Dep. of Pediatrics, Osaka Medical Coll., Takatsuki, JPN) ,  SHIMIZU Kenji (Div. of Medical Genetics, Saitama Children’s Medical Center, Saitama, JPN) ,  MIZUNO Seiji (Dep. of Pediatrics, Central Hospital, Aichi Human Serv. Center, Kasugai, JPN) ,  KUBOTA Masaya (Div. of Neurology, National Center for Child Health and Dev., Tokyo, JPN) ,  ADACHI Masao (Dep. of Pediatrics, Kakogawa Hospital Organization, Kakogawa West-City Hospital, Kakogawa, JPN) ,  SAITO Yoshiaki (Dep. of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, JPN) ,  TOMIWA Kiyotaka (Dep. of Pediatrics, Medical Center for Children, Osaka City General Hospital, Osaka, JPN) ,  HAGINOYA Kazuhiro (Dep. of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, JPN) ,  NUMABE Hironao (Dep. of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu Univ., Tokyo, JPN) ,  KAKO Yuko (Dep. of Pediatrics, Showa Univ. School of Medicine, Tokyo, JPN) ,  HAYASHI Ai (Dep. of Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, JPN) ,  SAKAMOTO Haruko (Dep. of Pediatrics, Osaka Red Cross Hospital, Osaka, JPN) ,  HIRAKI Yoko (Hiroshima Municipal Center for Child Health and Dev., Hiroshima, JPN) ,  MINAMI Koichi (Dep. of Pediatrics, Wakayama Medical Univ., Wakayama, JPN) ,  TAKEMOTO Kiyoshi ,  WATANABE Kyoko ,  MIURA Kiyokuni ,  CHIYONOBU Tomohiro ,  KUMADA Tomohiro ,  IMAI Katsumi ,  MAEGAKI Yoshihiro ,  NAGATA Satoru (Dep. of Pediatrics, Tokyo Women’s Medical Univ., Tokyo, JPN) ,  KOSAKI Kenjiro ,  IZUMI Tatsuro (Dep. of Pediatrics and Child Neurology, Oita Univ. Fac. of Medicine, Oita, JPN) ,  NAGAI Toshiro ,  YAMAMOTO Toshiyuki (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, Tokyo, JPN)
資料名： Brain & Development  (Brain & Development)
巻： 37  号： 5  ページ： 515-526  発行年： 2015年05月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 目的:モノソミー1p36症候群は最も一般的に観察されるテロメ...

シソーラス用語： ヒト ,...
準シソーラス用語： *1p36欠失症候群 ,...

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分類 (1件)： 先天性疾患・奇形の診断  (GD03020G)

引用文献 (49件)：

• Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FFB, Sutton VR, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997;61:642-50.
• Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, et al. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 2005;13:139-49.
• Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003;72:1200-12.
• Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A 2008;146A:2242-51.
• Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 2003;64:310-6.

タイトルに関連する用語 (6件)： 患者 ,  マイクロアレイ解析 ,  1p36欠失症候群 ,  合併症 ,  原因 ,  染色体