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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson, Bryony A; Spurdle, Amanda B; Plazzer, John-Paul; Greenblatt, Marc S; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P; Farrington, Susan M; Frayling, Ian M; Frebourg, Thierry; Goldgar, David E; Heinen, Christopher D; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J; Sijmons, Rolf; Tavtigian, Sean V; Tops, Carli M; Weber, Thomas; Wijnen, Juul; Woods, Michael O; Macrae, Finlay; Genuardi, Maurizio.
Afiliação
  • Thompson BA; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Spurdle AB; School of Medicine, University of Queensland, Brisbane, Australia.
  • Plazzer JP; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Greenblatt MS; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.
  • Akagi K; Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA.
  • Al-Mulla F; Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.
  • Bapat B; Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait.
  • Bernstein I; Department of Lab Medicine and Pathobiology, University of Toronto, Canada.
  • Capellá G; Danish HNPCC Registry, Copenhagen, Denmark.
  • den Dunnen JT; Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark.
  • du Sart D; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.
  • Fabre A; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Farrell MP; Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
  • Farrington SM; INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France.
  • Frayling IM; Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland.
  • Frebourg T; Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland.
  • Goldgar DE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Heinen CD; Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France.
  • Holinski-Feder E; Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.
  • Kohonen-Corish M; Huntsman Cancer Institute, Salt Lake City, UT, USA.
  • Robinson KL; Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.
  • Leung SY; Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA.
  • Martins A; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
  • Moller P; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.
  • Morak M; School of Medicine, University of Western Sydney, Sydney, Australia.
  • Nystrom M; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.
  • Peltomaki P; St Vincent's Clinical School, University of NSW, Sydney, Australia.
  • Pineda M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Qi M; Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
  • Ramesar R; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.
  • Rasmussen LJ; Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway.
  • Royer-Pokora B; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
  • Scott RJ; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.
  • Sijmons R; Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.
  • Tavtigian SV; Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
  • Tops CM; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.
  • Weber T; Center for Genetic and Genomic Medicine, The First Affiliated Hospital of Zhejiang University School of Medicine, James Watson Institute of Genomic Sciences, Beijing Genome Institute, China.
  • Wijnen J; University of Rochester Medical Center, NY, USA.
  • Woods MO; MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa.
  • Macrae F; Center for Healthy Aging, University of Copenhagen, Denmark.
  • Genuardi M; Institute of Human Genetics, University of Düsseldorf, Germany.
Nat Genet ; 46(2): 107-115, 2014 Feb.
Article em En | MEDLINE | ID: mdl-24362816
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Classificação / Bases de Dados Genéticas / Reparo de Erro de Pareamento de DNA / Neoplasias Gastrointestinais Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Classificação / Bases de Dados Genéticas / Reparo de Erro de Pareamento de DNA / Neoplasias Gastrointestinais Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos