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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
CCN1 mutation is associated with atrial septal defect.
Perrot A, Schmitt KR, Roth EM, Stiller B, Posch MG, Browne EN, Timmann C, Horstmann RD, Berger F, Özcelik C. Perrot A, et al. Among authors: ozcelik c. Pediatr Cardiol. 2015 Feb;36(2):295-9. doi: 10.1007/s00246-014-1001-8. Epub 2014 Aug 19. Pediatr Cardiol. 2015. PMID: 25135600
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.
106 results