Your browser doesn't support javascript.
loading
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake, Noriko; Wolf, Nicole I; Cayami, Ferdy K; Crawford, Joanna; Bley, Annette; Bulas, Dorothy; Conant, Alex; Bent, Stephen J; Gripp, Karen W; Hahn, Andreas; Humphray, Sean; Kimura-Ohba, Shihoko; Kingsbury, Zoya; Lajoie, Bryan R; Lal, Dennis; Micha, Dimitra; Pizzino, Amy; Sinke, Richard J; Sival, Deborah; Stolte-Dijkstra, Irene; Superti-Furga, Andrea; Ulrick, Nicole; Taft, Ryan J; Ogata, Tsutomu; Ozono, Keiichi; Matsumoto, Naomichi; Neubauer, Bernd A; Simons, Cas; Vanderver, Adeline.
Afiliação
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Wolf NI; Department of Child Neurology, and Amsterdam Neuroscience, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands. n.wolf@vumc.nl.
  • Cayami FK; Department of Child Neurology, and Amsterdam Neuroscience, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands.
  • Crawford J; Department of Clinical Genetics, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands.
  • Bley A; Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
  • Bulas D; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Conant A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
  • Bent SJ; Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC, USA.
  • Gripp KW; Department of Neurology, Children's National Medical Center, Suite 4800, Washington, DC, USA.
  • Hahn A; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Humphray S; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
  • Kimura-Ohba S; Department of Pediatric Neurology, Univ.-Klinikum Giessen/Marburg; Standort Giessen, Feulgenstr. 12, 35389, Giessen, Germany.
  • Kingsbury Z; Chesterford Research Park, Illumina, Inc., Little Chesterford, CB10 1XL, UK.
  • Lajoie BR; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Lal D; Chesterford Research Park, Illumina, Inc., Little Chesterford, CB10 1XL, UK.
  • Micha D; Illumina, Inc, San Diego, CA, USA.
  • Pizzino A; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Sinke RJ; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, USA.
  • Sival D; Department of Clinical Genetics, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands.
  • Stolte-Dijkstra I; Department of Neurology, Children's National Medical Center, Suite 4800, Washington, DC, USA.
  • Superti-Furga A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Ulrick N; Department of Child Neurology, University Hospital Groningen, Groningen, Netherlands.
  • Taft RJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Ogata T; Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, Lausanne, Switzerland.
  • Ozono K; Department of Neurology, Children's National Medical Center, Suite 4800, Washington, DC, USA.
  • Matsumoto N; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Neubauer BA; Illumina, Inc, San Diego, CA, USA.
  • Simons C; George Washington University School of Medicine, Washington, DC, USA.
  • Vanderver A; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Neurogenetics ; 18(4): 185-194, 2017 Dec.
Article em En | MEDLINE | ID: mdl-28842795
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Fator de Indução de Apoptose / Genes Ligados ao Cromossomo X / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Fator de Indução de Apoptose / Genes Ligados ao Cromossomo X / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article