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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Weiss, Karin; Terhal, Paulien A; Cohen, Lior; Bruccoleri, Michael; Irving, Melita; Martinez, Ariel F; Rosenfeld, Jill A; Machol, Keren; Yang, Yaping; Liu, Pengfei; Walkiewicz, Magdalena; Beuten, Joke; Gomez-Ospina, Natalia; Haude, Katrina; Fong, Chin-To; Enns, Gregory M; Bernstein, Jonathan A; Fan, Judith; Gotway, Garrett; Ghorbani, Mohammad; van Gassen, Koen; Monroe, Glen R; van Haaften, Gijs; Basel-Vanagaite, Lina; Yang, Xiang-Jiao; Campeau, Philippe M; Muenke, Maximilian.
Afiliación
  • Weiss K; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Terhal PA; Department of Genetics, Utrecht University Medical Center, Utrecht 3584 CX, the Netherlands.
  • Cohen L; Pediatric Genetics, Schneider Children Medical Center of Israel, Petah Tikva 49202, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
  • Bruccoleri M; Rosalind and Morris Goodman Cancer Research Center, McGill University, and Department of Medicine, McGill University Health Center, Montreal, QC H3G 2M1, Canada.
  • Irving M; Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, UK.
  • Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Beuten J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gomez-Ospina N; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.
  • Haude K; Department of Pediatric Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Fong CT; Department of Pediatric Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Enns GM; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.
  • Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.
  • Fan J; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Gotway G; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Ghorbani M; Rosalind and Morris Goodman Cancer Research Center, McGill University, and Department of Medicine, McGill University Health Center, Montreal, QC H3G 2M1, Canada.
  • van Gassen K; Department of Genetics, Utrecht University Medical Center, Utrecht 3584 CX, the Netherlands.
  • Monroe GR; Department of Genetics, Utrecht University Medical Center, Utrecht 3584 CX, the Netherlands; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht 3584 CX, the Netherlands.
  • van Haaften G; Department of Genetics, Utrecht University Medical Center, Utrecht 3584 CX, the Netherlands; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht 3584 CX, the Netherlands.
  • Basel-Vanagaite L; Pediatric Genetics, Schneider Children Medical Center of Israel, Petah Tikva 49202, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel; Felsenstein Medical Research C
  • Yang XJ; Rosalind and Morris Goodman Cancer Research Center, McGill University, and Department of Medicine, McGill University Health Center, Montreal, QC H3G 2M1, Canada.
  • Campeau PM; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C4, Canada. Electronic address: p.campeau@umontreal.ca.
  • Muenke M; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address: mmuenke@nhgri.nih.gov.
Am J Hum Genet ; 99(4): 934-941, 2016 Oct 06.
Article en En | MEDLINE | ID: mdl-27616479
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autoantígenos / Adenosina Trifosfato / Mutación Missense / Ensamble y Desensamble de Cromatina / Complejo Desacetilasa y Remodelación del Nucleosoma Mi-2 / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autoantígenos / Adenosina Trifosfato / Mutación Missense / Ensamble y Desensamble de Cromatina / Complejo Desacetilasa y Remodelación del Nucleosoma Mi-2 / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos