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J-GLOBAL ID：201302276250579950   整理番号：13A0019367

Exomeシークエンシングは表現型的に別個でX染色体優性型のNBIAを引き起こすDe Novo WDR45突然変異を明らかにする

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

著者 (40件)： HAACK Tobias B. (Inst. of Human Genetics, Technische Universitaet Muenchen, 85748 Munich, DEU) ,  HAACK Tobias B. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  HOGARTH Penelope (Dep. of Neurology, Oregon Health & Sci. Univ., Portland, OR 97239, USA) ,  HOGARTH Penelope (Dep. of Molecular & Medical Genetics, Oregon Health & Sci. Univ., Portland, OR 97239, USA) ,  KRUER Michael C. (Sanford Children’s Health Res. Center, Sioux Falls, SD 57104, USA) ,  GREGORY Allison (Dep. of Molecular & Medical Genetics, Oregon Health & Sci. Univ., Portland, OR 97239, USA) ,  WIELAND Thomas (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  SCHWARZMAYR Thomas (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  GRAF Elisabeth (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  SANFORD Lynn (Dep. of Molecular & Medical Genetics, Oregon Health & Sci. Univ., Portland, OR 97239, USA) ,  MEYER Esther (Neurosciences Unit, Inst. of Child Health, Univ. Coll. London, London WC1N 3BG, GBR) ,  MEYER Esther (Dep. of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, GBR) ,  KARA Eleanna (Dep. of Molecular Neuroscience, Univ. Coll. London Inst. of Neurology, Queen Square, London WC1N 3BG, GBR) ,  KARA Eleanna (Reta Lilla Weston Laboratories, Univ. Coll. London Inst. of Neurology, Queen Square, London WC1N 3BG, GBR) ,  CUNO Stephan M. (Inst. of Human Genetics, Technische Universitaet Muenchen, 85748 Munich, DEU) ,  CUNO Stephan M. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  HARIK Sami I. (Dep. of Neurology, Univ. of Arkansas for Medical Sciences, Little Rock, AR 72205, USA) ,  DANDU Vasuki H. (Dep. of Neurology, Univ. of Arkansas for Medical Sciences, Little Rock, AR 72205, USA) ,  NARDOCCI Nardo (Unit of Child Neurology, Dep. of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico ...) ,  ZORZI Giovanna (Unit of Child Neurology, Dep. of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico ...) ,  DUNAWAY Todd (Private practice, Tulsa, OK 74104, USA) ,  TARNOPOLSKY Mark (Div. of Neuromuscular and Neurometabolic Disorders, Dep. of Pediatrics, McMaster Univ. Medical Center, Hamilton, ON ...) ,  SKINNER Steven (Greenwood Genetic Center, Greenwood, SC 29646, USA) ,  FRUCHT Steven (Dep. of Neurology, Mount Sinai School of Medicine, New York, NY 10029, USA) ,  HANSPAL Era (Parkinson’s Disease and Movement Disorders Center, Albany Medical Center, Albany, NY 12208, USA) ,  HANSPAL Era (Dep. of Neurology, Albany Medical Coll., Albany, NY 12208, USA) ,  SCHRANDER-STUMPEL Connie (Dep. of Clinical Genetics, Academic Hospital Maastricht, Univ. of Limburg, 6229 GT Maastricht, NLD) ,  HERON Delphine (Clinical Genetics Unit, Centre de Reference des Deficiences Intellectuelles de Causes Rares, Groupe Hospitalier ...) ,  MIGNOT Cyril (Clinical Genetics Unit, Centre de Reference des Deficiences Intellectuelles de Causes Rares, Groupe Hospitalier ...) ,  GARAVAGLIA Barbara (Unit of Molecular Neurogenetics, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Inst. ...) ,  BHATIA Kailash ,  HARDY John (Dep. of Molecular Neuroscience, Univ. Coll. London Inst. of Neurology, Queen Square, London WC1N 3BG, GBR) ,  HARDY John (Reta Lilla Weston Laboratories, Univ. Coll. London Inst. of Neurology, Queen Square, London WC1N 3BG, GBR) ,  STROM Tim M. (Inst. of Human Genetics, Technische Universitaet Muenchen, 85748 Munich, DEU) ,  STROM Tim M. (Inst. of Human Genetics, Helmholtz Zentrum Muenchen, German Res. Center for Environmental Health, 85764 Neuherberg, DEU) ,  BODDAERT Nathalie ,  HOULDEN Henry H. (Dep. of Molecular Neuroscience, Univ. Coll. London Inst. of Neurology, Queen Square, London WC1N 3BG, GBR) ,  KURIAN Manju A. (Neurosciences Unit, Inst. of Child Health, Univ. Coll. London, London WC1N 3BG, GBR) ,  KURIAN Manju A. (Dep. of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, GBR) ,  MEITINGER Thomas (Inst. of Human Genetics, Technische Universitaet Muenchen, 85748 Munich, DEU)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 91  号： 6  ページ： 1144-1149  発行年： 2012年12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)： シークエンシング ,  表現型 ,  X染色体 ,  優性 ,  突然変異