Wissenschaftliche Publikationen Suche Suche Autor/in Forschungsgruppe Veröffentlichungsdatum Suchen Sortieren nach RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Reihenfolge AufsteigendAbsteigend Grossmann, Katja Dr. (1) Haucke, Volker Professor (1) Heuser, Arnd Dr. (3) Hummel, Oliver (1) Lee, Young-Ae Prof. Dr. (4) Marenholz, Ingo Dr. (3) Sperling, Silke Prof. Dr. (1) (-) Klaassen, Sabine Prof. Dr. med. (9) (-) Pilz, Bernhard Dr. (1) AG Müller/Dechend (ECRC) (6) Animal Phenotyping (4) Endokrinologie, Diabetes und Stoffwechselmedizin (1) Genetik und Genomik von Herz- Kreislauferkrankungen (12) (-) Genetik von Angeborenen Herzerkrankungen (9) Hypertonie-vermittelter Endorganschaden (6) Hypertonie bedingte Endorganschäden (6) Kardiale MRT (1) Mathematische Modellierung zellulärer Prozesse (1) Myologie (1) Proteom Dynamik (1) RNA Biologie und Posttranscriptionale Regulation (1) Systembiologie von Gen-regulatorischen Elementen (1) Translationale Kardiologie und Funktionelle Genomforschung (1) 2001 (1) 2002 (1) 2003 (1) 2004 (2) (-) 2006 (3) 2008 (3) 2009 (1) 2010 (1) 2011 (2) 2012 (4) 2013 (5) (-) 2014 (3) 2015 (4) (-) 2016 (3) 2017 (1) 2018 (1) 2019 (5) 2020 (1) 2021 (6) 2022 (12) 2023 (7) 9 Ergebnisse: Active Filter: Klaassen, Sabine Prof. Dr. med.Pilz, Bernhard Dr.Genetik von Angeborenen Herzerkrankungen200620142016 Sortieren: Treffgenauigkeit Neueste nach älteste Älteste nach neueste 02. Januar 2014 / Am J Hum Genet Reponse to De Leeuw and Houge A.K. Arndt C.A. Macrae S. Klaassen 02. Dezember 2016 Left ventricular noncompaction Y.M. Hoedemaekers S. Klaassen 01. September 2016 / Hum Mol Genet The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface W. Seifert Y. Posor P. Schu G. Stenbeck S. Mundlos S. Klaassen P. Nürnberg V. Haucke U. Kornak J. Kühnisch 03. April 2014 / Am J Hum Genet Rare variants in NR2F2 cause congenital heart defects in humans S. Al Turki A.K. Manickaraj C.L. Mercer S.S. Gerety M.P. Hitz S. Lindsay L.C.A. D'Alessandro G.J. Swaminathan J. Bentham A.K. Arndt J. Low J. Breckpot M. Gewillig B. Thienpont H. Abdul-Khaliq C. Harnack K. Hoff H.H. Kramer S. Schubert R. Siebert O. Toka C. Cosgrove H. Watkins A.M. Lucassen I.M. O'Kelly A.P. Salmon F.A. Bu'Lock J. Granados-Riveron K. Setchfield C. Thornborough J.D. Brook B. Mulder S. Klaassen S. Bhattacharya K. Devriendt D.F. Fitzpatrick D.I. Wilson S. Mital M.E. Hurles 01. Dezember 2006 / Am J Hum Genet Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy A. Heuser E.R. Plovie P.T. Ellinor K.S. Grossmann J.T. Shin T. Wichter C.T. Basson B.B. Lerman S. Sasse-Klaassen L. Thierfelder C.A. MacRae B. Gerull 01. August 2016 / Nat Genet Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A. Sifrim M.P. Hitz A. Wilsdon J. Breckpot S.H.A. Turki B. Thienpont J. McRae T.W. Fitzgerald T. Singh G.J. Swaminathan E. Prigmore D. Rajan H. Abdul-Khaliq S. Banka U.M.M. Bauer J. Bentham F. Berger S. Bhattacharya F. Bu'Lock N. Canham I.G. Colgiu C. Cosgrove H. Cox I. Daehnert A. Daly J. Danesh A. Fryer M. Gewillig E. Hobson K. Hoff T. Homfray A.K. Kahlert A. Ketley H.H. Kramer K. Lachlan A.K. Lampe J.J. Louw A.K. Manickara D. Manase K.P. McCarthy K. Metcalfe C. Moore R. Newbury-Ecob S.O. Omer W.H. Ouwehand S.M. Park M.J. Parker T. Pickardt M.O. Pollard L. Robert D.J. Roberts J. Sambrook K. Setchfield B. Stiller C. Thornborough O. Toka H. Watkins D. Williams M. Wright S. Mital P.E.F. Daubeney B. Keavney J. Goodship R.M. Abu-Sulaiman S. Klaassen C.F. Wright H.V. Firth J.C. Barrett K. Devriendt D.R. FitzPatrick J.D. Brook M.E. Hurles 01. Juni 2006 / J Mol Med Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy B. Gerull J. Atherton A. Geupel S. Sasse-Klaassen A. Heuser M. Frenneaux M. McNabb H. Granzier S. Labeit L. Thierfelder 04. Juli 2006 / J Am Coll Cardiol A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26 P.T. Ellinor S. Sasse-Klaassen S. Probst B. Gerull J.T. Shin A. Toeppel A. Heuser B. Michely D.M. Yoerger B.S. Song B. Pilz G. Krings B. Coplin P.E. Lange G.W. Dec H.C. Hennies L. Thierfelder C.A. MacRae 06. Januar 2014 / PLoS ONE Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot V. Bansal C. Dorn M. Grunert S. Klaassen R. Hetzer F. Berger S.R. Sperling
01. September 2016 / Hum Mol Genet The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface W. Seifert Y. Posor P. Schu G. Stenbeck S. Mundlos S. Klaassen P. Nürnberg V. Haucke U. Kornak J. Kühnisch
03. April 2014 / Am J Hum Genet Rare variants in NR2F2 cause congenital heart defects in humans S. Al Turki A.K. Manickaraj C.L. Mercer S.S. Gerety M.P. Hitz S. Lindsay L.C.A. D'Alessandro G.J. Swaminathan J. Bentham A.K. Arndt J. Low J. Breckpot M. Gewillig B. Thienpont H. Abdul-Khaliq C. Harnack K. Hoff H.H. Kramer S. Schubert R. Siebert O. Toka C. Cosgrove H. Watkins A.M. Lucassen I.M. O'Kelly A.P. Salmon F.A. Bu'Lock J. Granados-Riveron K. Setchfield C. Thornborough J.D. Brook B. Mulder S. Klaassen S. Bhattacharya K. Devriendt D.F. Fitzpatrick D.I. Wilson S. Mital M.E. Hurles
01. Dezember 2006 / Am J Hum Genet Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy A. Heuser E.R. Plovie P.T. Ellinor K.S. Grossmann J.T. Shin T. Wichter C.T. Basson B.B. Lerman S. Sasse-Klaassen L. Thierfelder C.A. MacRae B. Gerull
01. August 2016 / Nat Genet Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A. Sifrim M.P. Hitz A. Wilsdon J. Breckpot S.H.A. Turki B. Thienpont J. McRae T.W. Fitzgerald T. Singh G.J. Swaminathan E. Prigmore D. Rajan H. Abdul-Khaliq S. Banka U.M.M. Bauer J. Bentham F. Berger S. Bhattacharya F. Bu'Lock N. Canham I.G. Colgiu C. Cosgrove H. Cox I. Daehnert A. Daly J. Danesh A. Fryer M. Gewillig E. Hobson K. Hoff T. Homfray A.K. Kahlert A. Ketley H.H. Kramer K. Lachlan A.K. Lampe J.J. Louw A.K. Manickara D. Manase K.P. McCarthy K. Metcalfe C. Moore R. Newbury-Ecob S.O. Omer W.H. Ouwehand S.M. Park M.J. Parker T. Pickardt M.O. Pollard L. Robert D.J. Roberts J. Sambrook K. Setchfield B. Stiller C. Thornborough O. Toka H. Watkins D. Williams M. Wright S. Mital P.E.F. Daubeney B. Keavney J. Goodship R.M. Abu-Sulaiman S. Klaassen C.F. Wright H.V. Firth J.C. Barrett K. Devriendt D.R. FitzPatrick J.D. Brook M.E. Hurles
01. Juni 2006 / J Mol Med Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy B. Gerull J. Atherton A. Geupel S. Sasse-Klaassen A. Heuser M. Frenneaux M. McNabb H. Granzier S. Labeit L. Thierfelder
04. Juli 2006 / J Am Coll Cardiol A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26 P.T. Ellinor S. Sasse-Klaassen S. Probst B. Gerull J.T. Shin A. Toeppel A. Heuser B. Michely D.M. Yoerger B.S. Song B. Pilz G. Krings B. Coplin P.E. Lange G.W. Dec H.C. Hennies L. Thierfelder C.A. MacRae
06. Januar 2014 / PLoS ONE Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot V. Bansal C. Dorn M. Grunert S. Klaassen R. Hetzer F. Berger S.R. Sperling