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A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
Brodehl, Andreas; Weiss, Jürgen; Debus, Jana Davina; Stanasiuk, Caroline; Klauke, Bärbel; Deutsch, Marcus André; Fox, Henrik; Bax, Jördis; Ebbinghaus, Hans; Gärtner, Anna; Tiesmeier, Jens; Laser, Thorsten; Peterschröder, Andreas; Gerull, Brenda; Gummert, Jan; Paluszkiewicz, Lech; Milting, Hendrik.
Affiliation
  • Brodehl A; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany. Electronic address: abrodehl@hdz-nrw.de.
  • Weiss J; Institute for Clinical Biochemistry and Pathobiochemistry, Cellular Morphology, German Diabetes Center, Auf'm Hennekamp 65, 40225 Düsseldorf, Germany.
  • Debus JD; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Stanasiuk C; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Klauke B; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Deutsch MA; Department of Cardio-Thoracic Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Fox H; Department of Cardio-Thoracic Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Bax J; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Ebbinghaus H; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Gärtner A; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Tiesmeier J; Hospital Luebbecke-Rhaden, Muehlenkreis Hospitalsd, Medical-Campus OWL of the Ruhr-University Bochum, Virchowstr. 65, 32132 Luebbecke, Germany.
  • Laser T; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Peterschröder A; Institute for Radiology, Nuclear Medicine and Molecular Imaging, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Gerull B; Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada; Comprehensive Heart Failure Center and Department of Internal Medicine I, University Hospital Würzburg, Germany.
  • Gummert J; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany; Department of Cardio-Thoracic Surgery, Heart and Diabetes Center NRW, University
  • Paluszkiewicz L; Department of Cardio-Thoracic Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
  • Milting H; Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany. Electronic address: hmilting@hdz-nrw.de.
J Mol Cell Cardiol ; 141: 17-29, 2020 04.
Article de En | MEDLINE | ID: mdl-32201174
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du rythme cardiaque / Délétion de gène / Disomie uniparentale / Desmocollines / Cardiomyopathies Type d'étude: Risk_factors_studies Limites: Female / Humans / Male / Middle aged Langue: En Journal: J Mol Cell Cardiol Année: 2020 Type de document: Article Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du rythme cardiaque / Délétion de gène / Disomie uniparentale / Desmocollines / Cardiomyopathies Type d'étude: Risk_factors_studies Limites: Female / Humans / Male / Middle aged Langue: En Journal: J Mol Cell Cardiol Année: 2020 Type de document: Article Pays de publication: Royaume-Uni