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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Oegema, Renske; Cushion, Thomas D; Phelps, Ian G; Chung, Seo-Kyung; Dempsey, Jennifer C; Collins, Sarah; Mullins, Jonathan G L; Dudding, Tracy; Gill, Harinder; Green, Andrew J; Dobyns, William B; Ishak, Gisele E; Rees, Mark I; Doherty, Dan.
Afiliação
  • Oegema R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, ddoher@uw.edu r.oegema@erasmusmc.nl.
  • Cushion TD; Institute of Life Science, College of Medicine and.
  • Phelps IG; Department of Pediatrics.
  • Chung SK; Institute of Life Science, College of Medicine and Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea SA2 8PP, UK.
  • Dempsey JC; Department of Pediatrics.
  • Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Mullins JG; Institute of Life Science, College of Medicine and.
  • Dudding T; Hunter Genetics, Waratah, New South Wales, Australia, University of Newcastle, Callaghan, New South Wales, Australia.
  • Gill H; National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin 12, Ireland and.
  • Green AJ; National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin 12, Ireland and School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
  • Dobyns WB; Department of Pediatrics, Department of Neurology and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Ishak GE; Department of Radiology, Seattle Children's Hospital and University of Washington, Seattle, WA 98195, USA.
  • Rees MI; Institute of Life Science, College of Medicine and Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea SA2 8PP, UK.
  • Doherty D; Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA, ddoher@uw.edu r.oegema@erasmusmc.nl.
Hum Mol Genet ; 24(18): 5313-25, 2015 Sep 15.
Article em En | MEDLINE | ID: mdl-26130693
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Cerebelo / Mutação / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Cerebelo / Mutação / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article