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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A; Bongers, Ernie M H F; Schieving, Jolanda H; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M P C D; Terhal, Paulien A; van Gassen, Koen L; Verbeek, Nienke; Henry, Sonja; Scott Schwoerer, Jessica; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R; Macnamara, Ellen; Braakman, Hilde M H; Brimble, Elise; Ruzhnikov, Maura R Z; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B A; Gordon, Christopher T; Janssens, Veerle; Vissers, Lisenka E L M.
Afiliação
  • Reynhout S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium.
  • Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Haesen D; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium.
  • van Belle S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium.
  • de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Bongers EMHF; Department of Human Genetics, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Schieving JH; Department of Neurology, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Marcelis C; Department of Human Genetics, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Paris Descartes University, Sorbonne Paris Cité University and INSERM U1163, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Rio M; Service de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Mclaughlin H; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Ladda R; Penn State Hershey Children's Hospital, Hershey, PA 17033, USA.
  • Sell S; Penn State Hershey Children's Hospital, Hershey, PA 17033, USA.
  • Kriek M; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands.
  • Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands.
  • Terhal PA; Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands.
  • van Gassen KL; Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands.
  • Verbeek N; Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands.
  • Henry S; Biochemical Genetics Clinic, University of Wisconsin School of Medicine and Public Health, University of Wisconsin, Madison, WI 53705, USA.
  • Scott Schwoerer J; Biochemical Genetics Clinic, University of Wisconsin School of Medicine and Public Health, University of Wisconsin, Madison, WI 53705, USA.
  • Malik S; Comprehensive Epilepsy Program, Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, TX 76104, USA.
  • Revencu N; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.
  • Ferreira CR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Macnamara E; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Braakman HMH; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe & Maastricht UMC+, Sterkelseweg 65, 5591 VE Heeze, the Netherlands.
  • Brimble E; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA.
  • Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA 94305, USA.
  • Wagner M; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Harrer P; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
  • Tziperman B; Pediatric Neurology Unit, Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Barel O; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel Hashomer, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel Hashomer, Israel.
  • de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Paris Descartes University, Sorbonne Paris Cité University and INSERM U1163, Institut Imagine, 75015 Paris, France.
  • Janssens V; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium. Electronic address: veerle.janssens@kuleuven.be.
  • Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.
Am J Hum Genet ; 104(1): 139-156, 2019 01 03.
Article em En | MEDLINE | ID: mdl-30595372
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Fosfatase 2 / Deficiência Intelectual / Mutação Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Fosfatase 2 / Deficiência Intelectual / Mutação Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article