文献
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)