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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
May, Halie J; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S; Chassevent, Anna; Baptista, Julia; Baugh, Evan H; Bier, Louise; Bottani, Armand; Carminho A Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B; Roche, Katherine W; Anyane-Yeboa, Kwame.
Afiliación
  • May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. hh2742@cumc.columbia.edu.
  • Jeong J; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
  • Cohen JS; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
  • Chassevent A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Baptista J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Baugh EH; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Bier L; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Bottani A; Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Carminho A Rodrigues MT; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
  • Conlon C; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
  • Fluss J; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Guipponi M; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Kim CA; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Matsumoto N; Pediatric Neurology Unit, Pediatrics Subspecialties Service, Geneva Children's Hospital, Geneva, Switzerland.
  • Person R; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Primiano M; Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Rankin J; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Shinawi M; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Smith-Hicks C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
  • Telegrafi A; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Toy S; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA.
  • Uchiyama Y; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Aggarwal V; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Goldstein DB; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Roche KW; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA.
  • Anyane-Yeboa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Genet Med ; 23(10): 1912-1921, 2021 10.
Article en En | MEDLINE | ID: mdl-34113010
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Proteínas del Tejido Nervioso Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Proteínas del Tejido Nervioso Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos