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POGZ truncating alleles cause syndromic intellectual disability.
White, Janson; Beck, Christine R; Harel, Tamar; Posey, Jennifer E; Jhangiani, Shalini N; Tang, Sha; Farwell, Kelly D; Powis, Zöe; Mendelsohn, Nancy J; Baker, Janice A; Pollack, Lynda; Mason, Kati J; Wierenga, Klaas J; Arrington, Daniel K; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdalena; Person, Richard E; Niu, Zhiyv; Zhang, Jing; Rosenfeld, Jill A; Muzny, Donna M; Eng, Christine; Beaudet, Arthur L; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A; Yang, Yaping; Xia, Fan; Sutton, V Reid.
Afiliación
  • White J; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Tang S; Ambry Genetics, Aliso Viejo, CA, 92656, USA.
  • Farwell KD; Ambry Genetics, Aliso Viejo, CA, 92656, USA.
  • Powis Z; Ambry Genetics, Aliso Viejo, CA, 92656, USA.
  • Mendelsohn NJ; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55102, USA.
  • Baker JA; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55102, USA.
  • Pollack L; Arnold Palmer Medical Center, Division of Genetics, Orlando, FL, 32806, USA.
  • Mason KJ; Arnold Palmer Medical Center, Division of Genetics, Orlando, FL, 32806, USA.
  • Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
  • Arrington DK; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
  • Hall M; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
  • Psychogios A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37212, USA.
  • Fairbrother L; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37212, USA.
  • Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Person RE; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA.
  • Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Zhang J; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Muzny DM; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA.
  • Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Beaudet AL; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Boerwinkle E; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
  • Xia F; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.
Genome Med ; 8(1): 3, 2016 Jan 06.
Article en En | MEDLINE | ID: mdl-26739615
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Transposasas / Discapacidad Intelectual / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genome Med Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Transposasas / Discapacidad Intelectual / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genome Med Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos