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Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Montenegro-Garreaud, Ximena; Hansen, Adam W; Khayat, Michael M; Chander, Varuna; Grochowski, Christopher M; Jiang, Yunyun; Li, He; Mitani, Tadahiro; Kessler, Elena; Jayaseelan, Joy; Shen, Hua; Gezdirici, Alper; Pehlivan, Davut; Meng, Qingchang; Rosenfeld, Jill A; Jhangiani, Shalini N; Madan-Khetarpal, Suneeta; Scott, Daryl A; Abarca-Barriga, Hugo; Trubnykova, Milana; Gingras, Marie-Claude; Muzny, Donna M; Posey, Jennifer E; Liu, Pengfei; Lupski, James R; Gibbs, Richard A.
Afiliação
  • Montenegro-Garreaud X; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.
  • Hansen AW; División de Investigación, Instituto de Medicina Genética, Lima, Perú.
  • Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Chander V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jiang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Li H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Mitani T; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Kessler E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jayaseelan J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Shen H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Gezdirici A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Meng Q; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Rosenfeld JA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Madan-Khetarpal S; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Abarca-Barriga H; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Trubnykova M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Gingras MC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Posey JE; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.
Hum Mutat ; 41(12): 2094-2104, 2020 12.
Article em En | MEDLINE | ID: mdl-32935419
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Predisposição Genética para Doença / Genes Dominantes / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: America do sul / Peru Idioma: En Revista: Hum Mutat Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Predisposição Genética para Doença / Genes Dominantes / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: America do sul / Peru Idioma: En Revista: Hum Mutat Ano de publicação: 2020 Tipo de documento: Article