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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M; Büttner, Reinhard; Möslein, Gabriela; Betz, Regina C; Brieger, Angela; Lifton, Richard P; Aretz, Stefan.
Afiliación
  • Adam R; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Center for Hereditary Tumor Syndromes, University of Bonn, 53127 Bonn, Germany.
  • Spier I; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Center for Hereditary Tumor Syndromes, University of Bonn, 53127 Bonn, Germany.
  • Zhao B; Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
  • Kloth M; Institute of Pathology, University of Cologne, 50937 Cologne, Germany.
  • Marquez J; Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
  • Hinrichsen I; Medical Clinic 1, Biomedical Research Laboratory, Goethe-University Frankfurt, 60590 Frankfurt, Germany.
  • Kirfel J; Institute of Pathology, University of Bonn, 53127 Bonn, Germany.
  • Tafazzoli A; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Genomics, Life & Brain Center, University of Bonn, 53127 Bonn, Germany.
  • Horpaopan S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Anatomy, Faculty of Medical Science, Naresuan University, Phitsanulok, Chiang Mai 50200, Thailand.
  • Uhlhaas S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Stienen D; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Friedrichs N; Institute of Pathology, University of Cologne, 50937 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany; Institute of Human Genetics, University of Cologne, 50937 Cologne, Germany.
  • Laner A; Medizinische Klinik und Poliklinik IV, Ludwig-Maximilians-University, 80336 Munich, Germany; Medical Genetics Center, 80335 Munich, Germany.
  • Holzapfel S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Center for Hereditary Tumor Syndromes, University of Bonn, 53127 Bonn, Germany.
  • Peters S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Kayser K; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany.
  • Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Ludwig-Maximilians-University, 80336 Munich, Germany; Medical Genetics Center, 80335 Munich, Germany.
  • Marra G; Institute of Molecular Cancer Research, University of Zurich, CH-8057 Zurich, Switzerland.
  • Kristiansen G; Institute of Pathology, University of Bonn, 53127 Bonn, Germany.
  • Nöthen MM; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Genomics, Life & Brain Center, University of Bonn, 53127 Bonn, Germany.
  • Büttner R; Institute of Pathology, University of Cologne, 50937 Cologne, Germany.
  • Möslein G; HELIOS Klinikum Wuppertal, University of Witten/Herdecke, 42283 Wuppertal, Germany.
  • Betz RC; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Genomics, Life & Brain Center, University of Bonn, 53127 Bonn, Germany.
  • Brieger A; Medical Clinic 1, Biomedical Research Laboratory, Goethe-University Frankfurt, 60590 Frankfurt, Germany.
  • Lifton RP; Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
  • Aretz S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Center for Hereditary Tumor Syndromes, University of Bonn, 53127 Bonn, Germany. Electronic address: stefan.aretz@uni-bonn.de.
Am J Hum Genet ; 99(2): 337-51, 2016 Aug 04.
Article en En | MEDLINE | ID: mdl-27476653

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Mutación de Línea Germinal / Poliposis Adenomatosa del Colon / Proteínas de Unión al ADN / Alelos / Exoma / Genes Recesivos Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Mutación de Línea Germinal / Poliposis Adenomatosa del Colon / Proteínas de Unión al ADN / Alelos / Exoma / Genes Recesivos Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos