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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro, Valerie; Pusey, Barbara N; Cherukuri, Praveen F; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David R; Bhatt, Samarth S; Eydoux, Patrice; Links, Amanda E; Lehman, Anna; Malicdan, May C; Mason, Christopher E; Morimoto, Marie; Mullikin, James C; Sear, Andrew; Van Karnebeek, Clara; Stankiewicz, Pawel; Gahl, William A; Toro, Camilo; Boerkoel, Cornelius F.
Afiliação
  • Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
  • Pusey BN; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
  • Cherukuri PF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
  • Atkins P; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.
  • du Souich C; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Rupps R; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.
  • Limbos M; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Adams DR; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.
  • Bhatt SS; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Eydoux P; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.
  • Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
  • Lehman A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Malicdan MC; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Mason CE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
  • Morimoto M; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.
  • Mullikin JC; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Sear A; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
  • Van Karnebeek C; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, USA.
  • Stankiewicz P; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, New York, NY, USA.
  • Gahl WA; The Feil Family Brain and Mind Research Institute (BMRI), New York, NY, USA.
  • Toro C; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.
  • Boerkoel CF; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Orphanet J Rare Dis ; 11(1): 62, 2016 05 14.
Article em En | MEDLINE | ID: mdl-27179618
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Translocação Genética / Isoformas de Proteínas / Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos / Deficiência Intelectual Limite: Child / Female / Humans Idioma: En Revista: Orphanet J Rare Dis Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Translocação Genética / Isoformas de Proteínas / Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos / Deficiência Intelectual Limite: Child / Female / Humans Idioma: En Revista: Orphanet J Rare Dis Ano de publicação: 2016 Tipo de documento: Article