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Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost, Mark; Tiersma, Yvonne; Glubb, Dylan; Kathe, Scott; van Hees, Sandrine; Calléja, Fabienne; Zonneveld, José B M; Boucher, Kenneth M; Ramlal, Renuka P E; Thompson, Bryony A; Rasmussen, Lene Juel; Greenblatt, Marc S; Lee, Andrea; Spurdle, Amanda B; Tavtigian, Sean V; de Wind, Niels.
Afiliação
  • Drost M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Tiersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Glubb D; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kathe S; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • van Hees S; Departments of Microbiology and Molecular Genetics and Medicine, University of Vermont Cancer Center, University of Vermont Robert Larner College of Medicine, Burlington, VT, USA.
  • Calléja F; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Zonneveld JBM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Boucher KM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Ramlal RPE; Department of Medicine, Division of Epidemiology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Thompson BA; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Rasmussen LJ; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Greenblatt MS; Department of Clinical Pathology, University of Melbourne, Melbourne, Australia.
  • Lee A; Center for Healthy Aging, University of Copenhagen, Copenhagen, Denmark.
  • Spurdle AB; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Tavtigian SV; Departments of Microbiology and Molecular Genetics and Medicine, University of Vermont Cancer Center, University of Vermont Robert Larner College of Medicine, Burlington, VT, USA.
  • de Wind N; Departments of Microbiology and Molecular Genetics and Medicine, University of Vermont Cancer Center, University of Vermont Robert Larner College of Medicine, Burlington, VT, USA.
Genet Med ; 22(5): 847-856, 2020 05.
Article em En | MEDLINE | ID: mdl-31965077
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Proteínas de Ligação a DNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Proteínas de Ligação a DNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos