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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa, Ghayda; Timms, Andrew E; Conti, Valerio; Boyle, Evan August; Girisha, Katta M; Martin, Beth; Kircher, Martin; Olds, Carissa; Juusola, Jane; Collins, Sarah; Park, Kaylee; Carter, Melissa; Glass, Ian; Krägeloh-Mann, Inge; Chitayat, David; Parikh, Aditi Shah; Bradshaw, Rachael; Torti, Erin; Braddock, Stephen; Burke, Leah; Ghedia, Sondhya; Stephan, Mark; Stewart, Fiona; Prasad, Chitra; Napier, Melanie; Saitta, Sulagna; Straussberg, Rachel; Gabbett, Michael; O'Connor, Bridget C; Keegan, Catherine E; Yin, Lim Jiin; Lai, Angeline Hwei Meeng; Martin, Nicole; McKinnon, Margaret; Addor, Marie-Claude; Boccuto, Luigi; Schwartz, Charles E; Lanoel, Agustina; Conway, Robert L; Devriendt, Koenraad; Tatton-Brown, Katrina; Pierpont, Mary Ella; Painter, Michael; Worgan, Lisa; Reggin, James; Hennekam, Raoul; Tsuchiya, Karen; Pritchard, Colin C; Aracena, Mariana; Gripp, Karen W.
Affiliation
  • Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Timms AE; Center for Integrative Brain Research and.
  • Conti V; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Boyle EA; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Girisha KM; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
  • Martin B; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Kircher M; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Olds C; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Juusola J; Center for Integrative Brain Research and.
  • Collins S; Whole Exome Sequencing Program, GeneDx, Gaithersburg, Maryland, USA.
  • Park K; Center for Integrative Brain Research and.
  • Carter M; Center for Integrative Brain Research and.
  • Glass I; Regional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Krägeloh-Mann I; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Chitayat D; Center for Integrative Brain Research and.
  • Parikh AS; Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
  • Bradshaw R; Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Division, Department of Obstetrics and Gynecology, and.
  • Torti E; Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Braddock S; Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.
  • Burke L; Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.
  • Ghedia S; Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.
  • Stephan M; Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.
  • Stewart F; Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont, USA.
  • Prasad C; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Napier M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Saitta S; Belfast Health and Social Care Trust, Belfast, United Kingdom.
  • Straussberg R; Genetics, Metabolism and Pediatrics, London, Ontario, Canada.
  • Gabbett M; Genetics, Metabolism and Pediatrics, London, Ontario, Canada.
  • O'Connor BC; Clinical Genetics, Center for Personalized Medicine, Children's Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California, USA.
  • Keegan CE; Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Yin LJ; School of Medicine, Griffith University, Brisbane, Queensland, Australia.
  • Lai AHM; Division of Genetics, Department of Pediatrics, and.
  • Martin N; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • McKinnon M; Division of Genetics, Department of Pediatrics, and.
  • Addor MC; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Boccuto L; Genetics Service, Department of Pediatric Medicine, KK Women's and Children's Hospital, Singapore.
  • Schwartz CE; Genetics Service, Department of Pediatric Medicine, KK Women's and Children's Hospital, Singapore.
  • Lanoel A; Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Conway RL; British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia, Canada.
  • Devriendt K; Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland.
  • Tatton-Brown K; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Pierpont ME; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Painter M; Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina.
  • Worgan L; Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, USA.
  • Reggin J; Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
  • Hennekam R; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.
  • Tsuchiya K; Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA.
  • Pritchard CC; Department of Child Neurology, University of Florida, Jacksonville, Florida, USA.
  • Aracena M; Department of Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.
  • Gripp KW; Department of Neurology, University of Washington, Seattle, Washington, USA.
JCI Insight ; 1(9)2016 06 16.
Article in En | MEDLINE | ID: mdl-27631024
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Malformations of Cortical Development / Vascular Malformations / Class I Phosphatidylinositol 3-Kinases / Mosaicism Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant / Male Language: En Journal: JCI Insight Year: 2016 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Malformations of Cortical Development / Vascular Malformations / Class I Phosphatidylinositol 3-Kinases / Mosaicism Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant / Male Language: En Journal: JCI Insight Year: 2016 Document type: Article Affiliation country: Country of publication: