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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain, Michael D; Aten, Emmelien; Cho, Megan T; Juusola, Jane; Walkiewicz, Magdalena A; Ray, Joseph W; Xia, Fan; Yang, Yaping; Graham, Brett H; Bacino, Carlos A; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A L; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K; Weiss, Marjan M; van Ravenswaaij-Arts, Conny M A; Mathijssen, Inge B; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K; Race, Simone; Stewart, Laura L; Hay, Beverly; Lewis, Andrea M; Guerreiro, Rita L; Bras, Jose T; Martins, Marcia P; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A; Santen, Gijs W E; Schaaf, Christian P.
  • Fountain MD; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Aten E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Cho MT; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
  • Juusola J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Walkiewicz MA; GeneDX, Gaithersburg, Maryland, USA.
  • Ray JW; GeneDX, Gaithersburg, Maryland, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Yang Y; Division of Medical Genetics, University of Texas Medical Branch, Galveston, Texas, USA.
  • Graham BH; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • van Haeringen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Ruivenkamp CA; Texas Children's Hospital, Houston, Texas, USA.
  • Mancias P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Northrup H; Texas Children's Hospital, Houston, Texas, USA.
  • Kukolich MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Weiss MM; Texas Children's Hospital, Houston, Texas, USA.
  • van Ravenswaaij-Arts CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Mathijssen IB; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Levesque S; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.
  • Meeks N; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.
  • Rosenfeld JA; Genetic Services, Cook Children's Health Care System, Fort Worth, Texas, USA.
  • Lemke D; Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Hamosh A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Lewis SK; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Race S; Département de pédiatrie, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada.
  • Stewart LL; Children's Hospital Colorado, Aurora, Colorado, USA.
  • Hay B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lewis AM; Children's Hospital Colorado, Aurora, Colorado, USA.
  • Guerreiro RL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Bras JT; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Martins MP; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Derksen-Lubsen G; Department of Pediatrics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Peeters E; Division of Genetics, UMass Memorial Children's Medical Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
  • Stumpel C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Stegmann S; Texas Children's Hospital, Houston, Texas, USA.
  • Bok LA; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.
  • Santen GW; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.
  • Schaaf CP; Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade Hospital de Vila Real, Vila Real, Portugal.
Genet Med ; 19(1): 45-52, 2017 01.
Article en En | MEDLINE | ID: mdl-27195816
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Proteínas / Discapacidades del Desarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Proteínas / Discapacidades del Desarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2017 Tipo del documento: Article