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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Mirzaa, Ghayda; Parry, David A; Fry, Andrew E; Giamanco, Kristin A; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V; Roberts, Nicola; Johnson, Colin A; Singh, Shawn; Kholmanskikh, Stanislav S; Adams, Carissa; Hodge, Rebecca D; Hevner, Robert F; Bonthron, David T; Braun, Kees P J; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W; Mancini, Grazia Ms; Pang, Ki; Sweeney, Elizabeth; van Esch, Hilde; Verbeek, Nienke; Wieczorek, Dagmar; Steinraths, Michelle; Majewski, Jacek; Boycot, Kym M; Pilz, Daniela T; Ross, M Elizabeth; Dobyns, William B; Sheridan, Eamonn G.
Afiliación
  • Mirzaa G; Department of Pediatrics, University of Washington; and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
  • Parry DA; Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
  • Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Giamanco KA; Neurogenetics and Development, Feil Family Brain and Mind Research institute, Weill Cornell Medical College, New York, NY.
  • Schwartzentruber J; Mcgill University and Genome Quebec Innovation centre, Montreal, QC H3A 1A4, Canada.
  • Vanstone M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Logan CV; Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
  • Roberts N; Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
  • Johnson CA; Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
  • Singh S; Neurogenetics and Development, Feil Family Brain and Mind Research institute, Weill Cornell Medical College, New York, NY.
  • Kholmanskikh SS; Neurogenetics and Development, Feil Family Brain and Mind Research institute, Weill Cornell Medical College, New York, NY.
  • Adams C; Department of Pediatrics, University of Washington; and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
  • Hodge RD; Department of Pediatrics, University of Washington; and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
  • Hevner RF; Departments of Neurological Surgery and Pathology, University of Washington; and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle.
  • Bonthron DT; Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
  • Braun KPJ; Department of Child Neurology, UMC Utrecht, Utrecht, The Netherlands.
  • Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU Dijon, Université de Bourgogne, Dijon F-21000, France.
  • Rivière JB; Université de Bourgogne Equipe GAD, EA 4271 Dijon F-21000 France.
  • St-Onge J; Université de Bourgogne Equipe GAD, EA 4271 Dijon F-21000 France.
  • Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Mancini GM; Department of Clinical Genetics and Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.
  • Pang K; Department of Paediatric Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
  • Sweeney E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • van Esch H; Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium.
  • Verbeek N; Department of Medical Genetics, UMC Utrecht, Utrecht, The Netherlands.
  • Wieczorek D; Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany.
  • Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Majewski J; Mcgill University and Genome Quebec Innovation centre, Montreal, QC H3A 1A4, Canada.
  • Boycot KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Pilz DT; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Ross ME; Neurogenetics and Development, Feil Family Brain and Mind Research institute, Weill Cornell Medical College, New York, NY.
  • Dobyns WB; Department of Pediatrics, University of Washington; and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
  • Sheridan EG; Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK.
Nat Genet ; 46(5): 510-515, 2014 May.
Article en En | MEDLINE | ID: mdl-24705253
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Polidactilia / Malformaciones del Desarrollo Cortical / Ciclina D2 / Megalencefalia / Hidrocefalia Límite: Animals / Female / Humans Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Polidactilia / Malformaciones del Desarrollo Cortical / Ciclina D2 / Megalencefalia / Hidrocefalia Límite: Animals / Female / Humans Idioma: En Año: 2014 Tipo del documento: Article