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106 results

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A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C. Posch MG, et al. Among authors: ozcelik c. Mol Genet Metab. 2008 Sep-Oct;95(1-2):74-80. doi: 10.1016/j.ymgme.2008.06.005. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18678517
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.
Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. Perrot A, et al. Among authors: ozcelik c. Basic Res Cardiol. 2009 Jan;104(1):90-9. doi: 10.1007/s00395-008-0748-6. Epub 2008 Sep 15. Basic Res Cardiol. 2009. PMID: 18795223
Molecular genetics of congenital atrial septal defects.
Posch MG, Perrot A, Berger F, Ozcelik C. Posch MG, et al. Among authors: ozcelik c. Clin Res Cardiol. 2010 Mar;99(3):137-47. doi: 10.1007/s00392-009-0095-0. Epub 2009 Dec 11. Clin Res Cardiol. 2010. PMID: 20012542 Free PMC article. Review.
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C. Geier C, et al. Among authors: ozcelik c. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. doi: 10.1093/hmg/ddn160. Epub 2008 May 27. Hum Mol Genet. 2008. PMID: 18505755
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Mégarbané A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C. Posch MG, et al. Among authors: ozcelik c. J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16. J Med Genet. 2010. PMID: 19762328 Free PMC article.
Evidence for CTLA4 as a susceptibility gene for dilated cardiomyopathy.
Ruppert V, Meyer T, Struwe C, Petersen J, Perrot A, Posch MG, Ozcelik C, Richter A, Maisch B, Pankuweit S; German Heart Failure Network. Ruppert V, et al. Among authors: ozcelik c. Eur J Hum Genet. 2010 Jun;18(6):694-9. doi: 10.1038/ejhg.2010.3. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145677 Free PMC article.
106 results