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Page 1
Molecular genetics of congenital atrial septal defects.
Posch MG, Perrot A, Berger F, Ozcelik C. Posch MG, et al. 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.
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: posch mg. Pediatr Cardiol. 2015 Feb;36(2):295-9. doi: 10.1007/s00246-014-1001-8. Epub 2014 Aug 19. Pediatr Cardiol. 2015. PMID: 25135600
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: posch mg. 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
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: posch mj. 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
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. 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.
48 results