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HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt, Deepika D'Cunha; Zachariou, Anna; Loveday, Chey; Allen, Clare L; Amor, David J; Ardissone, Anna; Banka, Siddharth; Bourgois, Alexia; Coubes, Christine; Cytrynbaum, Cheryl; Faivre, Laurence; Marion, Gerard; Horton, Rachel; Kotzot, Dieter; Lay-Son, Guillermo; Lees, Melissa; Low, Karen; Luk, Ho-Ming; Mark, Paul; McConkie-Rosell, Allyn; McDonald, Marie; Pappas, John; Phillipe, Christophe; Shears, Deborah; Skotko, Brian; Stewart, Fiona; Stewart, Helen; Temple, I Karen; Mau-Them, Frederic T; Verdugo, Ricardo A; Weksberg, Rosanna; Zarate, Yuri A; Graham, John M; Tatton-Brown, Katrina.
Afiliación
  • Burkardt DD; Center for Human Genetics,University Hospitals Rainbow Babies and Children, Department of genetics, Case Western Reserve University, Cleveland, Ohio.
  • Zachariou A; Institute of Cancer Research, London, UK.
  • Loveday C; Institute of Cancer Research, London, UK.
  • Allen CL; Lowerbank Dental Practice, Leyland, UK.
  • Amor DJ; Department of Paediatrics, The Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia.
  • Ardissone A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Lombardia, Italy.
  • Banka S; Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
  • Bourgois A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Coubes C; CHU Côte de Nacre, Service de Génétique, Caen, France.
  • Cytrynbaum C; Hôpital Arnaud de Villeneuve Montpellier, Montpellier, France.
  • Faivre L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marion G; Genetics Center, Hôpital d'Enfants, Dijon, France.
  • Horton R; Service de Génétique, Centre Hospitalier Universitaire de Caen Normandie, Caen, France.
  • Kotzot D; University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Lay-Son G; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Lees M; División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Low K; Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Luk HM; Clinical Genetics, St Michaels Hospital, University Hospitals Bristol, Bristol, UK.
  • Mark P; Department of Health, Clinical Genetic Service, Hong Kong, Hong Kong.
  • McConkie-Rosell A; Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan.
  • McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Genetics, Durham, North Carolina.
  • Pappas J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Genetics, Durham, North Carolina.
  • Phillipe C; Human Genetics Program, University School of Medicine, New York, New York, USA.
  • Shears D; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, INSERM UMR1231 GAD, Dijon, France.
  • Skotko B; Clinical Genetics, Churchill Hospital, Oxford, UK.
  • Stewart F; Division of Medical Genetics and Genomics, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Stewart H; Medical Genetics, Belfast City Hospital, Belfast, UK.
  • Temple IK; Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford, UK.
  • Mau-Them FT; Faculty of Medicine, Wessex Clinical Genetics Service, University Hospital Southampton, University of Southampton, Southampton, UK.
  • Verdugo RA; UF D'innovation en Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, FHU TRANSLAD, Dijon, France.
  • Weksberg R; Programa de Genética Humans, ICBM, Santiago, Chile.
  • Zarate YA; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Graham JM; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas.
  • Tatton-Brown K; Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.
Am J Med Genet A ; 179(10): 2049-2055, 2019 10.
Article en En | MEDLINE | ID: mdl-31400068
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Histonas / Facies / Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Histonas / Facies / Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article