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Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin, Rachel; Radmanesh, Alireza; Glass, Ian A; Dobyns, William B; Aldinger, Kimberly A; Shieh, Joseph T; Romoser, Shelby; Bombei, Hannah; Dowsett, Leah; Trapane, Pamela; Bernat, John A; Baker, Janice; Mendelsohn, Nancy J; Popp, Bernt; Siekmeyer, Manuela; Sorge, Ina; Sansbury, Francis Hugh; Watts, Patrick; Foulds, Nicola C; Burton, Jennifer; Hoganson, George; Hurst, Jane A; Menzies, Lara; Osio, Deborah; Kerecuk, Larissa; Cobben, Jan M; Jizi, Khadijé; Jacquemont, Sebastien; Bélanger, Stacey A; Löhner, Katharina; Veenstra-Knol, Hermine E; Lemmink, Henny H; Keller-Ramey, Jennifer; Wentzensen, Ingrid M; Punj, Sumit; McWalter, Kirsty; Lenberg, Jerica; Ellsworth, Katarzyna A; Radtke, Kelly; Akbarian, Schahram; Pappas, John.
Afiliação
  • Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA.
  • Radmanesh A; Division of Pediatric Neuroradiology, Department of Radiology, NYU School of Medicine, New York, New York, USA.
  • Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Dobyns WB; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
  • Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Shieh JT; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
  • Romoser S; Department of Neurology, University of Washington, Seattle, Washington, USA.
  • Bombei H; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Dowsett L; Institute for Human Genetics, Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA.
  • Trapane P; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA.
  • Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA.
  • Baker J; Kapi'olani Medical Specialists and Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, Hawaii, USA.
  • Mendelsohn NJ; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, Florida, USA.
  • Popp B; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA.
  • Siekmeyer M; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Sorge I; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Sansbury FH; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Watts P; Department of Pediatrics Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Foulds NC; Department of Pediatric Radiology, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Burton J; All Wales Medical Genomics Service, Institute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.
  • Hoganson G; Department of Ophthalmology, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.
  • Hurst JA; Wessex Clinical Genetics Services, Southampton University Hospital NHS Foundation Trust, Southampton, UK.
  • Menzies L; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA.
  • Osio D; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA.
  • Kerecuk L; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Cobben JM; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Jizi K; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Jacquemont S; Renal Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Bélanger SA; North West Thames Regional Genetic Services, Northwick Park Hospitals NHS Foundation Trust, London, UK.
  • Löhner K; Emma Children Hospital, Amsterdam, The Netherlands.
  • Veenstra-Knol HE; CHU Sainte-Justine Hospital, Montreal, Quebec, Canada.
  • Lemmink HH; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.
  • Keller-Ramey J; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
  • Wentzensen IM; Development Clinic, CHU Sainte-Justine Hospital, Montreal, Quebec, Canada.
  • Punj S; Department of Medicine, University of Montreal, Montreal, Quebec, Canada.
  • McWalter K; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Lenberg J; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Ellsworth KA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Radtke K; GeneDx, Gaithersburg, Maryland, USA.
  • Akbarian S; GeneDx, Gaithersburg, Maryland, USA.
  • Pappas J; GeneDx, Gaithersburg, Maryland, USA.
Am J Med Genet A ; 182(9): 2037-2048, 2020 09.
Article em En | MEDLINE | ID: mdl-32710489
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Histona-Lisina N-Metiltransferase / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Histona-Lisina N-Metiltransferase / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article