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Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad, Sabine; Rolain, Marion; Coutant, Sophie; Derambure, Céline; Lanos, Raphael; Charbonnier, Françoise; Bou, Jacqueline; Bouvignies, Emilie; Lienard, Gwendoline; Vasseur, Stéphanie; Farrell, Michael; Ingster, Olivier; Baert Desurmont, Stéphanie; Kasper, Edwige; Bougeard, Gaëlle; Frébourg, Thierry; Tournier, Isabelle.
Afiliação
  • Raad S; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Rolain M; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Coutant S; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Derambure C; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Lanos R; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Charbonnier F; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Bou J; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Bouvignies E; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Lienard G; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Vasseur S; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Farrell M; Cancer Genetics Service, Mater Private Hospital, Dublin, Leinster, Ireland.
  • Ingster O; Department of Genetics, University Hospital Centre Angers, Angers, Pays de la Loire, France.
  • Baert Desurmont S; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Kasper E; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Bougeard G; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
  • Frébourg T; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France thierry.frebourg@chu-rouen.fr.
  • Tournier I; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
J Med Genet ; 58(12): 796-805, 2021 12.
Article em En | MEDLINE | ID: mdl-33051313
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Proteína Supressora de Tumor p53 / Mutação em Linhagem Germinativa / Predisposição Genética para Doença / Neoplasias Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Proteína Supressora de Tumor p53 / Mutação em Linhagem Germinativa / Predisposição Genética para Doença / Neoplasias Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França