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230 results
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TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
Reamon-Buettner SM, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Hum Mutat. 2004 Jul;24(1):104. doi: 10.1002/humu.9255. Hum Mutat. 2004. PMID: 15221798
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD).
Reamon-Buettner SM, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Hum Mutat. 2010 Nov;31(11):1185-94. doi: 10.1002/humu.21345. Epub 2010 Oct 12. Hum Mutat. 2010. PMID: 20725931 Review.
A functional genetic study identifies HAND1 mutations in septation defects of the human heart.
Reamon-Buettner SM, Ciribilli Y, Traverso I, Kuhls B, Inga A, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Hum Mol Genet. 2009 Oct 1;18(19):3567-78. doi: 10.1093/hmg/ddp305. Epub 2009 Jul 7. Hum Mol Genet. 2009. PMID: 19586923
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.
Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Hum Mol Genet. 2008 May 15;17(10):1397-405. doi: 10.1093/hmg/ddn027. Epub 2008 Feb 14. Hum Mol Genet. 2008. PMID: 18276607
Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).
Reamon-Buettner SM, Cho SH, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. BMC Med Genet. 2007 Jun 25;8:38. doi: 10.1186/1471-2350-8-38. BMC Med Genet. 2007. PMID: 17592645 Free PMC article.
HEY2 mutations in malformed hearts.
Reamon-Buettner SM, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Hum Mutat. 2006 Jan;27(1):118. doi: 10.1002/humu.9390. Hum Mutat. 2006. PMID: 16329098
Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
Inga A, Reamon-Buettner SM, Borlak J, Resnick MA. Inga A, et al. Among authors: borlak j. Hum Mol Genet. 2005 Jul 15;14(14):1965-75. doi: 10.1093/hmg/ddi202. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917268
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
Reamon-Buettner SM, Hecker H, Spanel-Borowski K, Craatz S, Kuenzel E, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Am J Pathol. 2004 Jun;164(6):2117-25. doi: 10.1016/S0002-9440(10)63770-4. Am J Pathol. 2004. PMID: 15161646 Free PMC article.
The next innovation cycle in toxicogenomics: environmental epigenetics.
Reamon-Buettner SM, Mutschler V, Borlak J. Reamon-Buettner SM, et al. Among authors: borlak j. Mutat Res. 2008 Jul-Aug;659(1-2):158-65. doi: 10.1016/j.mrrev.2008.01.003. Epub 2008 Jan 19. Mutat Res. 2008. PMID: 18342568 Review.
Genetic analysis of cardiac-specific transcription factors reveals novel insights into molecular causes of congenital heart disease.
Reamon-Buettner S, Borlak J. Reamon-Buettner S, et al. Among authors: borlak j. Future Cardiol. 2005 May;1(3):355-61. doi: 10.1517/14796678.1.3.355. Future Cardiol. 2005. PMID: 19804118
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