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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Özcelik C. Posch MG, et al. Among authors: schmitt kr. PLoS One. 2011;6(12):e28872. doi: 10.1371/journal.pone.0028872. Epub 2011 Dec 14. PLoS One. 2011. PMID: 22194935 Free PMC article.
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: schmitt kr. 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.
Blood: a very special juice. The good and the evil.
Schmitt KR, Miera O, Berger F. Schmitt KR, et al. Eur J Cardiothorac Surg. 2014 Jun;45(6):1058-9. doi: 10.1093/ejcts/ezt595. Epub 2014 Jan 12. Eur J Cardiothorac Surg. 2014. PMID: 24420368 No abstract available.
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: schmitt kr. Pediatr Cardiol. 2015 Feb;36(2):295-9. doi: 10.1007/s00246-014-1001-8. Epub 2014 Aug 19. Pediatr Cardiol. 2015. PMID: 25135600
68 results