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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Vilboux, Thierry; Malicdan, May Christine V; Chang, Yun Min; Guo, Jennifer; Zerfas, Patricia M; Stephen, Joshi; Cullinane, Andrew R; Bryant, Joy; Fischer, Roxanne; Brooks, Brian P; Zein, Wadih M; Wiggs, Edythe A; Zalewski, Christopher K; Poretti, Andrea; Bryan, Melanie M; Vemulapalli, Meghana; Mullikin, James C; Kirby, Martha; Anderson, Stacie M; Huizing, Marjan; Toro, Camilo; Gahl, William A; Gunay-Aygun, Meral.
Afiliação
  • Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA.
  • Malicdan MC; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.
  • Chang YM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Guo J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Zerfas PM; Diagnostic and Research Services Branch, Office of Research Services, National Institutes of Health, Bethesda, Maryland, USA.
  • Stephen J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Department of Anatomy, College of Medicine, Howard University, Washington DC, USA.
  • Bryant J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Fischer R; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Brooks BP; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Zein WM; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Wiggs EA; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Zalewski CK; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Poretti A; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland, USA.
  • Bryan MM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Vemulapalli M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Mullikin JC; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Kirby M; Flow Cytometry Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Anderson SM; Flow Cytometry Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Toro C; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.
  • Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA National Human Genome Research Institute, National Institutes of Health, Bet
  • Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
J Med Genet ; 53(5): 318-29, 2016 05.
Article em En | MEDLINE | ID: mdl-27095636
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Laminina / Mutação / Miopia / Transtorno Obsessivo-Compulsivo Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Laminina / Mutação / Miopia / Transtorno Obsessivo-Compulsivo Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos