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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Proietti Onori, Martina; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly A F; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje W M; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen L I; Juusola, Jane; Foss, Kimberly.
Afiliación
  • Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: sebastien.kury@chu-nantes.fr.
  • van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
  • Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Proietti Onori M; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
  • Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
  • Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Ploeg MA; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
  • Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Stessman HAF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.
  • Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.
  • Distel B; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Medical Biochemistry, Academic Medical Center, University
  • Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.
  • Lesca G; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.
  • Sellars EA; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
  • Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
  • Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
  • Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • van Bon BWM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Waugh JL; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Deardorff M; Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
  • Bosanko KB; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
  • Johnson DS; Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
  • Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
  • Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.
  • Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
  • Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
  • Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
  • Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Burton J; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
  • Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Douglas J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Santani AB; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Path and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4238, USA.
  • Nesbitt AI; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Helbig KL; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
  • Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
  • Tang S; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.
  • van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Am J Hum Genet ; 101(5): 768-788, 2017 Nov 02.
Article en En | MEDLINE | ID: mdl-29100089
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína Quinasa Tipo 2 Dependiente de Calcio Calmodulina / Discapacidad Intelectual / Mutación Tipo de estudio: Clinical_trials Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína Quinasa Tipo 2 Dependiente de Calcio Calmodulina / Discapacidad Intelectual / Mutación Tipo de estudio: Clinical_trials Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article