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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A L; Nibbeling, Esther; Dingemans, Alexander J M; Douine, Emilie D; Nelson, Stanley F; Hempel, Maja.
Affiliation
  • Kennedy J; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.
  • Goudie D; University of Bristol, Bristol, UK.
  • Blair E; Clinical Genetics, Ninewells Hospital & Medical School, Dundee, UK.
  • Chandler K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Joss S; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.
  • McKay V; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester Foundation NHS Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Green A; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Armstrong R; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK.
  • Lees M; Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Kamien B; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • Hopper B; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
  • Tan TY; Clinical Genetics, Great Ormond Street Hospital NHS Trust, London, UK.
  • Yap P; Hunter Genetics, Newcastle, Australia.
  • Stark Z; Hunter Genetics, Newcastle, Australia.
  • Okamoto N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Miyake N; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Matsumoto N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Macnamara E; Genetic Health Service New Zealand, Auckland, New Zealand.
  • Murphy JL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • McCormick E; Department of Medical Genetics, Osaka Medical Center, Osaka, Japan.
  • Hakonarson H; Research Institute for Maternal and Child Health, Osaka Medical Center, Osaka, Japan.
  • Falk MJ; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Li D; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Blackburn P; National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Klee E; National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Babovic-Vuksanovic D; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Schelley S; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hudgins L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Kant S; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Isidor B; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Cogne B; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Bradbury K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Williams M; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Patel C; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Heussler H; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
  • Duff-Farrier C; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
  • Lakeman P; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Scurr I; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Kini U; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Elting M; Clinical Genetics Guys and St Thomas' NHS Foundation Trust, Guys Hospital, London, UK.
  • Reijnders M; Molecular Diagnostics, Mater Group, South Brisbane, Queensland, Australia.
  • Schuurs-Hoeijmakers J; Genetic Health Queensland, Herston, Brisbane, Queensland, Australia.
  • Wafik M; Child Development Service, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Blomhoff A; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
  • Ruivenkamp CAL; Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
  • Nibbeling E; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.
  • Dingemans AJM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Douine ED; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.
  • Nelson SF; Klinisch Geneticus, VU Medisch centrum, Amsterdam, The Netherlands.
  • Hempel M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
Genet Med ; 21(4): 850-860, 2019 04.
Article de En | MEDLINE | ID: mdl-30245513
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Incapacités de développement / Histone acetyltransferases / Déficience intellectuelle Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2019 Type de document: Article Pays d'affiliation: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Incapacités de développement / Histone acetyltransferases / Déficience intellectuelle Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2019 Type de document: Article Pays d'affiliation: Royaume-Uni