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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harris, Catharine; Goetsch, Allison; Martin, Beth; Boyle, Evan August; Parrini, Elena; Mei, Davide; Tattini, Lorenzo; Slavotinek, Anne; Blair, Ed; Barnett, Christopher; Shendure, Jay; Chelly, Jamel; Dobyns, William B; Guerrini, Renzo.
Afiliação
  • Mirzaa GM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: gmirzaa@uw.edu.
  • Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
  • Smyser CD; Department of Neurology and Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
  • Ahmed S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Carter M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Barnett S; Division of Medical Genetics, University of Missouri, St Louis, MO, USA.
  • Hufnagel RB; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
  • Goldstein A; Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Narumi-Kishimoto Y; Department of Pediatrics, Shimada Ryoiku Center Hachioji, Tokyo, Japan.
  • Olds C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Johnston K; Genetics Department, Permanente Medical Group, San Francisco, CA, USA.
  • Deleuze JF; Centre National de Génotypage, Evry, France.
  • Nitschké P; Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France.
  • Friend K; Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.
  • Harris C; Division of Medical Genetics, University of Missouri, St Louis, MO, USA.
  • Goetsch A; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Martin B; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Boyle EA; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Tattini L; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Slavotinek A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.
  • Blair E; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington, UK.
  • Barnett C; South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia; Discipline of Pediatrics, University of Adelaide, Adelaide, Australia.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Chelly J; Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; IGBMC, Translational Medicine and Neurogenetics Department, Illkirch, France.
  • Dobyns WB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address: renzo.guerrini@meyer.it.
Lancet Neurol ; 14(12): 1182-95, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26520804
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Fosfatidilinositol 3-Quinases / Malformações do Desenvolvimento Cortical / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Fosfatidilinositol 3-Quinases / Malformações do Desenvolvimento Cortical / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article