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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling.
Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A; VanHasselt, Peter M; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet.
Afiliação
  • Johnson BV; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
  • Kumar R; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
  • Oishi S; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia.
  • Alexander S; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia.
  • Kasherman M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia.
  • Vega MS; Queensland Brain Institute, The University of Queensland, Brisbane, Australia.
  • Ivancevic A; University of Adelaide and Robinson Research Institute, Adelaide, Australia; BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado.
  • Gardner A; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
  • Domingo D; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
  • Corbett M; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
  • Parnell E; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
  • Yoon S; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
  • Oh T; Department of Medical Genetics, British Columbia Women's Hospital and University of British Columbia, Vancouver, British Columbia, Canada.
  • Lines M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom.
  • Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom.
  • Van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
  • Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
  • Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
  • Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
  • Pasquier L; Service de Génétique Clinique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre Hospitalier Universitaire Hôpital Sud, Rennes, France.
  • Raynaud M; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Unité Nixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France.
  • Afenjar A; Groupe de Recherche Clinique No. 19, ConCer-LD, Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Centres de Référence Maladies Rares des Déficits Intellectuels de Causes Rares, Paris, France.
  • Billette de Villemeur T; Sorbonne Université, Groupe de Recherche Clinique No. 19, ConCer-LD, Neuropédiatrie, Centres de Référence Maladies Rares Neurogénétique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.
  • Keren B; Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Désir J; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
  • Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
  • Marangoni M; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
  • Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • VanHasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Weiss M; Department of Clinical Genetics, Vrije Universiteit University Medical Center, Amsterdam, The Netherlands.
  • Zwijnenburg P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Sa J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Reis CF; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • López-Otín C; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain; Centro de Investigación Biomédica en Red de Cáncer, Spain.
  • Santiago-Fernández O; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain.
  • Fernández-Jaén A; Unidad de Neurología Infantil, Hospital Universitário Quirón Madrid, Madrid, Spain.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
  • Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
  • Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
  • Goldstein A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Madan-Khetarpal S; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
  • Infante E; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
  • Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Mcdougall C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Biol Psychiatry ; 87(2): 100-112, 2020 01 15.
Article em En | MEDLINE | ID: mdl-31443933
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Fator de Crescimento Transformador beta / Deficiência Intelectual Tipo de estudo: Guideline / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Biol Psychiatry Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Fator de Crescimento Transformador beta / Deficiência Intelectual Tipo de estudo: Guideline / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Biol Psychiatry Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália