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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Blatter, Robert; Tschupp, Benjamin; Aretz, Stefan; Bernstein, Inge; Colas, Chrystelle; Evans, D Gareth; Genuardi, Maurizio; Hes, Frederik J; Hüneburg, Robert; Järvinen, Heikki; Lalloo, Fiona; Moeslein, Gabriela; Renkonen-Sinisalo, Laura; Resta, Nicoletta; Spier, Isabel; Varvara, Dora; Vasen, Hans; Latchford, Andrew R; Heinimann, Karl.
Affiliation
  • Blatter R; Institute for Medical Genetics and Pathology, University Hospital Basel, and Research Group Human Genomics, Department of Research, University of Basel, Basel, Switzerland.
  • Tschupp B; Institute for Medical Genetics and Pathology, University Hospital Basel, and Research Group Human Genomics, Department of Research, University of Basel, Basel, Switzerland.
  • Aretz S; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
  • Bernstein I; National Center for Hereditary Tumour Syndromes, University Hospital, Bonn, Germany.
  • Colas C; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, and Danish HNPCC Registry, Department of Surgical Gastroenterology, Hvidovre University Hospital, Hvidovre, Denmark.
  • Evans DG; Department of Oncogenetics and Angiogenetics, Pitie-Salpetriere Hospital, Sorbonne Université, Paris, France.
  • Genuardi M; Department of Genetics, Institut Curie, Université de Recherche Paris Sciences et Lettres, Paris, France.
  • Hes FJ; Department of Genomic Medicine, Manchester Universities NHS Foundation Trust and Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
  • Hüneburg R; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.
  • Järvinen H; Università Cattolica del Sacro Cuore, Istituto di Medicina Genomica, Rome, Italy.
  • Lalloo F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Moeslein G; National Center for Hereditary Tumour Syndromes, University Hospital, Bonn, Germany.
  • Renkonen-Sinisalo L; Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany.
  • Resta N; Department of Surgery, Helsinki University Central Hospital, Helsinki University, Helsinki, Finland.
  • Spier I; Department of Genomic Medicine, Manchester Universities NHS Foundation Trust and Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
  • Varvara D; Center for Hereditary Tumors, HELIOS Klinikum Wuppertal, University Witten-Herdecke, Wuppertal, Germany.
  • Vasen H; Department of Surgery, Helsinki University Central Hospital, Helsinki University, Helsinki, Finland.
  • Latchford AR; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.
  • Heinimann K; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Genet Med ; 22(9): 1524-1532, 2020 09.
Article in En | MEDLINE | ID: mdl-32398773

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplastic Syndromes, Hereditary / Intestinal Polyposis Type of study: Diagnostic_studies / Guideline / Observational_studies / Qualitative_research / Risk_factors_studies Limits: Adult / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplastic Syndromes, Hereditary / Intestinal Polyposis Type of study: Diagnostic_studies / Guideline / Observational_studies / Qualitative_research / Risk_factors_studies Limits: Adult / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Switzerland