文献

J-GLOBAL ID：201302294897478399   整理番号：13A0484276

AUTS2内のエキソンの欠失は知的障害の症候群型を引き起こし、C Terminusの重要な役割を示唆する

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

著者 (40件)： BEUNDERS Gea (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  VOORHOEVE Els (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  GOLZIO Christelle (Center for Human Disease Modeling, Dep. of Cell Biology, Duke Univ. Medical Center, Durham, NC 27710, USA) ,  PARDO Luba M. (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  ROSENFELD Jill A. (Signature Genomic Laboratories, Perkin Elmer, Spokane, WA 99207, USA) ,  TALKOWSKI Michael E. (Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...) ,  TALKOWSKI Michael E. (Program in Medical and Population Genetics, Broad Inst., Cambridge, MA 02142, USA) ,  SIMONIC Ingrid (East Anglian Medical Genetics Serv., Addenbrooke’s Hospital, Cambridge Univ. Hospitals, National Health Serv. ...) ,  LIONEL Anath C. (The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto ...) ,  LIONEL Anath C. (Dep. of Molecular Genetics and the McLaughlin Centre, Univ. of Toronto, Toronto, ON M5S 1A1, CAN) ,  VERGULT Sarah (Center for Medical Genetics, Univ. Hospital Ghent, Ghent 9000, BEL) ,  PYATT Robert E. (Pathology and Lab. Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA) ,  PYATT Robert E. (Dep. of Pathology, The Ohio State Univ., Columbus, OH 43210, USA) ,  VAN DE KAMP Jiddeke (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  NIEUWINT Aggie (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  WEISS Marjan M. (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  RIZZU Patrizia (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  VERWER Lucilla E.N.I. (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  VAN SPAENDONK Rosalina M.L. (Dep. of Clinical Genetics, VU Univ. Medical Center, Amsterdam 1007 MB, NLD) ,  SHEN Yiping (Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...) ,  SHEN Yiping (Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA) ,  SHEN Yiping (Shanghai Children’s Medical Center, Shanghai Jiaotong Univ. School of Medicine, Shanghai 200025, CHN) ,  WU Bai-lin (Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA) ,  WU Bai-lin (Children’s Hospital and Institutes of Biomedical Sci., Fudan Univ., Shanghai 200032, CHN) ,  YU Tingting (Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA) ,  YU Tingting (Shanghai Children’s Medical Center, Shanghai Jiaotong Univ. School of Medicine, Shanghai 200025, CHN) ,  YU Yongguo (Dep. of Lab. Medicine, Boston Children’s Hospital, Boston, MA 02114, USA) ,  YU Yongguo (Shanghai Children’s Medical Center, Shanghai Jiaotong Univ. School of Medicine, Shanghai 200025, CHN) ,  CHIANG Colby (Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...) ,  GUSELLA James F. (Center for Human Genetic Res., Massachusetts General Hospital, affiliated with Departments of Genetics and Neurology ...) ,  GUSELLA James F. (Program in Medical and Population Genetics, Broad Inst., Cambridge, MA 02142, USA) ,  LINDGREN Amelia M. (Dep. of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA) ,  LINDGREN Amelia M. (Dep. of Obstetrics, Gynecology, and Reproductive Biology, Harvard Medical School, Boston, MA 02115, USA) ,  MORTON Cynthia C. (Program in Medical and Population Genetics, Broad Inst., Cambridge, MA 02142, USA) ,  MORTON Cynthia C. (Dep. of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA) ,  MORTON Cynthia C. (Dep. of Obstetrics, Gynecology, and Reproductive Biology, Harvard Medical School, Boston, MA 02115, USA) ,  VAN BINSBERGEN Ellen (Dep. of Medical Genetics, Univ. Medical Center Utrecht, Utrecht 3508 AB, NLD) ,  BULK Saskia (Dep. of Medical Genetics, Univ. Medical Center Utrecht, Utrecht 3508 AB, NLD) ,  VAN ROSSEM Els (Onze-Lieve-Vrouwe Ziekenhuis, Aalst 9300, BEL) ,  VANAKKER Olivier (Center for Medical Genetics, Univ. Hospital Ghent, Ghent 9000, BEL)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 92  号： 2  ページ： 210-220  発行年： 2013年02月07日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (5件)： エキソン ,  欠失 ,  知的障害 ,  症候群 ,  役割