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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry, A; Noor, A; Degagne, B; Baker, K; Bok, L A; Brady, A F; Chitayat, D; Chung, B H; Cytrynbaum, C; Dyment, D; Filges, I; Helm, B; Hutchison, H T; Jeng, L J B; Laumonnier, F; Marshall, C R; Menzel, M; Parkash, S; Parker, M J; Raymond, L F; Rideout, A L; Roberts, W; Rupps, R; Schanze, I; Schrander-Stumpel, C T R M; Speevak, M D; Stavropoulos, D J; Stevens, S J C; Thomas, E R A; Toutain, A; Vergano, S; Weksberg, R; Scherer, S W; Vincent, J B; Carter, M T.
Afiliação
  • Chaudhry A; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Noor A; Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Degagne B; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Baker K; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Bok LA; Department of Medical Genetics, Cambridge, UK.
  • Brady AF; Institute for Medical Research Wellcome Trust, University of Cambridge, Cambridge, UK.
  • Chitayat D; Department of Clinical Genetics, Unit of Cytogenetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Chung BH; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
  • Cytrynbaum C; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Dyment D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Filges I; Department of Pediatrics and Adolescent Medicine, Department of Obstetrics and Gynaecology, Centre for Reproduction, Development and Growth, Centre for Genomic Sciences, The University of Hong Kong, Pok Fu Lam, Hong Kong.
  • Helm B; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hutchison HT; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Jeng LJ; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Laumonnier F; Division of Medical Genetics, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
  • Marshall CR; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters/Eastern Virginia Medical School, Norfolk, VA, USA.
  • Menzel M; Departments of Neurology and Pediatrics, UCSF Fresno Medical Education Program, San Francisco, CA, USA.
  • Parkash S; Department of Laboratory Medicine, University of California, San Francisco, CA, USA.
  • Parker MJ; UMR_INSERM U930 Faculté de Médecine, Université François Rabelais, Tours, France.
  • Raymond LF; CeGaT GmbH, Tuebingen, Germany.
  • Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Roberts W; Dalhousie University Halifax, Nova Scotia, Canada.
  • Rupps R; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield, UK.
  • Schrander-Stumpel CT; Department of Medical Genetics, Cambridge, UK.
  • Speevak MD; Institute for Medical Research Wellcome Trust, University of Cambridge, Cambridge, UK.
  • Stavropoulos DJ; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Stevens SJ; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Thomas ER; Department of Medical Genetics, Children's and Women's Health Centre, University of British Columbia, Vancouver, BC, Canada.
  • Toutain A; Institute of Human Genetics, University Hospital Magedeburg, Magedeburg, Germany.
  • Vergano S; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
  • Weksberg R; Credit Valley Site, Trillium Health Partners, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Onatario, Canada.
  • Scherer SW; Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Vincent JB; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Carter MT; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
Clin Genet ; 88(3): 224-33, 2015 Sep.
Article em En | MEDLINE | ID: mdl-25131214
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deleção de Sequência / Transtorno do Espectro Autista / Proteínas de Membrana / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deleção de Sequência / Transtorno do Espectro Autista / Proteínas de Membrana / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá