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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal, James D; Yoshimatsu, Toshio; Zhang, Bifeng; de Garibay, Gorka R; Colombo, Mara; De Vecchi, Giovanna; Ayoub, Samantha C; Lal, Kumar; Olopade, Olufunmilayo I; Vega, Ana; Santamariña, Marta; Blanco, Ana; Wappenschmidt, Barbara; Becker, Alexandra; Houdayer, Claude; Walker, Logan C; López-Perolio, Irene; Thomassen, Mads; Parsons, Michael; Whiley, Phillip; Blok, Marinus J; Brandão, Rita D; Tserpelis, Demis; Baralle, Diana; Montalban, Gemma; Gutiérrez-Enríquez, Sara; Díez, Orland; Lazaro, Conxi; Spurdle, Amanda B; Radice, Paolo; de la Hoya, Miguel.
Afiliação
  • Fackenthal JD; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • Yoshimatsu T; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • Zhang B; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • de Garibay GR; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • Colombo M; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.
  • De Vecchi G; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.
  • Ayoub SC; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • Lal K; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • Olopade OI; Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • Vega A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
  • Santamariña M; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
  • Blanco A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
  • Wappenschmidt B; Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.
  • Becker A; Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.
  • Houdayer C; Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Walker LC; Department of Pathology, University of Otago, Christchurch, New Zealand.
  • López-Perolio I; Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.
  • Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
  • Parsons M; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Whiley P; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Brandão RD; Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands.
  • Tserpelis D; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Baralle D; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.
  • Montalban G; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Gutiérrez-Enríquez S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Díez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain.
  • Lazaro C; Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
  • Spurdle AB; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.
  • de la Hoya M; Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.
J Med Genet ; 53(8): 548-58, 2016 08.
Article em En | MEDLINE | ID: mdl-27060066

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Mensageiro / Processamento Alternativo / Proteína BRCA2 Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Mensageiro / Processamento Alternativo / Proteína BRCA2 Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos