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Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Helle, Emmi; Córdova-Palomera, Aldo; Ojala, Tiina; Saha, Priyanka; Potiny, Praneetha; Gustafsson, Stefan; Ingelsson, Erik; Bamshad, Michael; Nickerson, Deborah; Chong, Jessica X; Ashley, Euan; Priest, James R.
Afiliação
  • Helle E; Pediatric Research Center, Children's Hospital, University of Helsinki, Helsinki, Finland.
  • Córdova-Palomera A; Division of Cardiovascular Medicine, Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
  • Ojala T; Department of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA.
  • Saha P; Pediatric Research Center, Children's Hospital, University of Helsinki, Helsinki, Finland.
  • Potiny P; Department of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA.
  • Gustafsson S; Department of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA.
  • Ingelsson E; Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Bamshad M; Division of Cardiovascular Medicine, Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
  • Nickerson D; Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Chong JX; Department of Pediatrics, University of Washington, Seattle, WA.
  • Ashley E; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Priest JR; Department of Genome Sciences, University of Washington, Seattle, WA.
Genet Epidemiol ; 43(2): 215-226, 2019 03.
Article em En | MEDLINE | ID: mdl-30511478
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Obstrução do Fluxo Ventricular Externo / Íntrons / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Receptor Notch1 / Mutação com Perda de Função / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Epidemiol Assunto da revista: EPIDEMIOLOGIA / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Obstrução do Fluxo Ventricular Externo / Íntrons / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Receptor Notch1 / Mutação com Perda de Função / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Epidemiol Assunto da revista: EPIDEMIOLOGIA / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Finlândia