Your browser doesn't support javascript.
loading
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Miskinyte, Snaigune; Butler, Matthew G; Hervé, Dominique; Sarret, Catherine; Nicolino, Marc; Petralia, Jacob D; Bergametti, Francoise; Arnould, Minh; Pham, Van N; Gore, Aniket V; Spengos, Konstantinos; Gazal, Steven; Woimant, France; Steinberg, Gary K; Weinstein, Brant M; Tournier-Lasserve, Elisabeth.
Afiliação
  • Miskinyte S; INSERM UMR-S-740; Université Paris, 7 Denis Diderot, 10 Avenue de Verdun, 75010 Paris, France.
  • Butler MG; Program in Genomics of Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.
  • Hervé D; Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Lariboisière-Saint-Louis, Service de Neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil, F-75010 Paris, France.
  • Sarret C; Hospices Civils de Lyon, Groupe Hospitalier Est, Hôpital Femme-Mère-Enfant, Service de Neurologie Pédiatrique, 69677 Bron, France.
  • Nicolino M; Division of Pediatric Endocrinology, Lyon University Pediatric Hospital, INSERM U.870, Centre d'Investigation Clinique 201, Université Claude Bernard Lyon 1, Hospices Civils de Lyon, Lyon, France.
  • Petralia JD; Department of Neurosurgery, Stanford Stroke Center and Stanford Institute for Neuro-Innovation and Translational Neurosciences, Stanford University School of Medicine, Stanford, California, USA.
  • Bergametti F; INSERM UMR-S-740; Université Paris, 7 Denis Diderot, 10 Avenue de Verdun, 75010 Paris, France.
  • Arnould M; INSERM UMR-S-740; Université Paris, 7 Denis Diderot, 10 Avenue de Verdun, 75010 Paris, France.
  • Pham VN; Program in Genomics of Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.
  • Gore AV; Program in Genomics of Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.
  • Spengos K; First Department of Neurology, Eginition Hospital, National and Kapodestrian University of Athens, School of Medicine, 11528 Athens, Greece.
  • Gazal S; Assistance Publique des Hôpitaux de Paris, Plateforme de Génomique Constitutionnelle du Groupe Hospitalo Universitaire Nord, Hôpital Bichat, F-75010 Paris, France.
  • Woimant F; Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Lariboisière-Saint-Louis, Service de Neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil, F-75010 Paris, France.
  • Steinberg GK; Department of Neurosurgery, Stanford Stroke Center and Stanford Institute for Neuro-Innovation and Translational Neurosciences, Stanford University School of Medicine, Stanford, California, USA.
  • Weinstein BM; Program in Genomics of Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.
  • Tournier-Lasserve E; INSERM UMR-S-740; Université Paris, 7 Denis Diderot, 10 Avenue de Verdun, 75010 Paris, France; Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Lariboisière-Saint-Louis, Laboratoire de Génétique, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil, F-75010 Paris,
Am J Hum Genet ; 88(6): 718-728, 2011 Jun 10.
Article em En | MEDLINE | ID: mdl-21596366
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Vasos Sanguíneos / Neovascularização Fisiológica / Cromossomos Humanos X / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas de Membrana / Doença de Moyamoya Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2011 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: Vasos Sanguíneos / Neovascularização Fisiológica / Cromossomos Humanos X / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas de Membrana / Doença de Moyamoya Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2011 Tipo de documento: Article