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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux, Thierry; Doherty, Daniel A; Glass, Ian A; Parisi, Melissa A; Phelps, Ian G; Cullinane, Andrew R; Zein, Wadih; Brooks, Brian P; Heller, Theo; Soldatos, Ariane; Oden, Neal L; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, James C; Malicdan, May Christine V; Gahl, William A; Gunay-Aygun, Meral.
Afiliação
  • Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Doherty DA; Inova Translational Medicine Institute, Falls Church, Virginia, USA.
  • Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Parisi MA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Cullinane AR; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Zein W; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Brooks BP; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Heller T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Soldatos A; Department of Anatomy, Howard University College of Medicine, Washington DC, USA.
  • Oden NL; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Yildirimli D; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Vemulapalli M; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.
  • Mullikin JC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Nisc Comparative Sequencing Program; The EMMES Corporation, Rockville, Maryland, USA.
  • Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Gahl WA; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Gunay-Aygun M; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Genet Med ; 19(8): 875-882, 2017 08.
Article em En | MEDLINE | ID: mdl-28125082
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Técnicas de Diagnóstico Molecular / Doenças Renais Císticas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Técnicas de Diagnóstico Molecular / Doenças Renais Císticas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos