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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li, Lili; Hamel, Nancy; Baker, Kristi; McGuffin, Michael J; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A; Feng, Bing-Jian; Goldgar, David E; Zhu, Jun; De Rosa, Marina; Gruber, Stephen B; Wimmer, Katharina; Young, Barbara; Chong, George; Tischkowitz, Marc D; Foulkes, William D.
Afiliação
  • Li L; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Hamel N; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
  • Baker K; Department of Pathology, McGill University, Montreal, Quebec, Canada Gastroenterology Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.
  • McGuffin MJ; Department of Software and Information Technology Engineering, École de technologie supérieure, Montreal, Quebec, Canada.
  • Couillard M; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.
  • Gologan A; Department of Pathology, Jewish General Hospital, Montreal, Quebec, Canada.
  • Marcus VA; Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada.
  • Chodirker B; Department of Pediatrics and Child Health and Department of Biochemistry and Medical Genetics, Winnipeg, Manitoba, Canada.
  • Chudley A; Department of Pediatrics and Child Health and Department of Biochemistry and Medical Genetics, Winnipeg, Manitoba, Canada.
  • Stefanovici C; Department of Pathology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Durandy A; INSERM U768, Hôpital Necker, Paris, France.
  • Hegele RA; Robarts Research Institute and Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
  • Feng BJ; Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah, USA.
  • Goldgar DE; Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah, USA.
  • Zhu J; Systems Biology Center, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • De Rosa M; Department of Molecular Medicine and Medical Biotechnology and CEINGE Biotechnologie Avanzate, University of Naples-Federico II, Naples, Italy.
  • Gruber SB; USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
  • Wimmer K; Division Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria.
  • Young B; Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada First Nations and Inuit Health Branch, Health Canada (Quebec Region), Montreal, Quebec, Canada.
  • Chong G; Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Pathology, Jewish General Hospital, Montreal, Quebec, Canada.
  • Tischkowitz MD; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University, Montreal, Quebec, Canada Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada Department of Med
  • Foulkes WD; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada Lady Davis Institute
J Med Genet ; 52(5): 348-52, 2015 May.
Article em En | MEDLINE | ID: mdl-25691505
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Neoplasias Colorretais / Adenosina Trifosfatases / Efeito Fundador / Enzimas Reparadoras do DNA / Proteínas de Ligação a DNA / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Neoplasias Colorretais / Adenosina Trifosfatases / Efeito Fundador / Enzimas Reparadoras do DNA / Proteínas de Ligação a DNA / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá