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Page 1
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Luyckx I, Kumar AA, Reyniers E, Dekeyser E, Vanderstraeten K, Vandeweyer G, Wünnemann F, Preuss C, Mazzella JM, Goudot G, Messas E, Albuisson J, Jeunemaitre X, Eriksson P, Mohamed SA, Kempers M, Salemink S, Duijnhouwer A, Andelfinger G, Dietz HC, Verstraeten A, Van Laer L, Loeys BL; MIBAVA Leducq Consortium. Luyckx I, et al. Among authors: andelfinger g. Eur J Hum Genet. 2019 Jul;27(7):1033-1043. doi: 10.1038/s41431-019-0364-y. Epub 2019 Feb 28. Eur J Hum Genet. 2019. PMID: 30820038 Free PMC article. Clinical Trial.
Bicuspid aortic valve is heritable.
Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Cripe L, et al. Among authors: andelfinger g. J Am Coll Cardiol. 2004 Jul 7;44(1):138-43. doi: 10.1016/j.jacc.2004.03.050. J Am Coll Cardiol. 2004. PMID: 15234422 Free article.
Partitioning of copy-number genotypes in pedigrees.
Perreault LP, Andelfinger GU, Asselin G, Dubé MP. Perreault LP, et al. Among authors: andelfinger gu. BMC Bioinformatics. 2010 May 3;11:226. doi: 10.1186/1471-2105-11-226. BMC Bioinformatics. 2010. PMID: 20438641 Free PMC article.
Rare copy number variants contribute to congenital left-sided heart disease.
Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G. Hitz MP, et al. Among authors: andelfinger g. PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. PLoS Genet. 2012. PMID: 22969434 Free PMC article.
Genetics of heart failure in congenital heart disease.
Preuss C, Andelfinger G. Preuss C, et al. Among authors: andelfinger g. Can J Cardiol. 2013 Jul;29(7):803-10. doi: 10.1016/j.cjca.2013.03.011. Epub 2013 May 22. Can J Cardiol. 2013. PMID: 23706783 Review.
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium; Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Chetaille P, et al. Among authors: andelfinger g. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282101
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C. Wünnemann F, et al. Among authors: andelfinger g. Can J Cardiol. 2016 Jan;32(1):135.e1-7. doi: 10.1016/j.cjca.2015.04.004. Epub 2015 Apr 13. Can J Cardiol. 2016. PMID: 26148450
A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome.
Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, Thomas CJ, Caulfield MJ, Van Eyk JE, Judge DP, Dietz HC; GenTAC Registry Consortium; MIBAVA Leducq Consortium. Doyle JJ, et al. Elife. 2015 Oct 27;4:e08648. doi: 10.7554/eLife.08648. Elife. 2015. PMID: 26506064 Free PMC article.
128 results