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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito, Yoko; Carss, Keren J; Duarte, Sofia T; Hartley, Taila; Keren, Boris; Kurian, Manju A; Marey, Isabelle; Charles, Perinne; Mendonça, Carla; Nava, Caroline; Pfundt, Rolph; Sanchis-Juan, Alba; van Bokhoven, Hans; van Essen, Anthony; van Ravenswaaij-Arts, Conny; Boycott, Kym M; Kernohan, Kristin D; Dyack, Sarah; Raymond, F Lucy.
Afiliação
  • Ito Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1 Canada.
  • Carss KJ; Department of Haematology, University of Cambridge, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Duarte ST; Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, Portugal.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1 Canada.
  • Keren B; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651 Paris, France.
  • Kurian MA; Developmental Neurosciences, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Marey I; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651 Paris, France.
  • Charles P; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651 Paris, France.
  • Mendonça C; Centro de Neuropediatria e Desenvolvimento, Centro Hospitalar Universitário do Algarve, Faro 8000, Portugal.
  • Nava C; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie, Paris 75013, France.
  • Pfundt R; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • van Bokhoven H; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Box 9101, 6500 HB Nijmegen, the Netherlands.
  • van Essen A; University of Groningen, University Medical Centre Groningen, Department of Genetics, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
  • van Ravenswaaij-Arts C; University of Groningen, University Medical Centre Groningen, Department of Genetics, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1 Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1 Canada.
  • Dyack S; Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada.
  • Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address: flr24@cam.ac.uk.
Am J Hum Genet ; 103(1): 144-153, 2018 07 05.
Article em En | MEDLINE | ID: mdl-29961568
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Família de Proteínas da Síndrome de Wiskott-Aldrich / Deficiência Intelectual / Mutação Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Família de Proteínas da Síndrome de Wiskott-Aldrich / Deficiência Intelectual / Mutação Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article