15358028 20800588 20624503 23283745 23299917 22958901 23403236 24111713 24055113 23140321 25637381 25132132 27247418 27532257 27841901 28640247 29300372 30297972 30696458 34542152 25961035 24664454 33190526 35544052[uid] - Search Results

Year	Number of Results
2004	1
2010	2
2012	2
2013	5
2014	3
2015	2
2016	3
2017	2
2018	3
2019	1
2020	1
2022	2
2024	0

1

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ. Van Driest SL, et al. J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. doi: 10.1016/j.jacc.2004.04.039. J Am Coll Cardiol. 2004. PMID: 15358028 Free article.

2

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G, Chanavat V, Créhalet H, Rousson R. Millat G, et al. Clin Chim Acta. 2010 Dec 14;411(23-24):1983-91. doi: 10.1016/j.cca.2010.08.017. Epub 2010 Aug 26. Clin Chim Acta. 2010. PMID: 20800588

3

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624503

4

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

Zou Y, Wang J, Liu X, Wang Y, Chen Y, Sun K, Gao S, Zhang C, Wang Z, Zhang Y, Feng X, Song Y, Wu Y, Zhang H, Jia L, Wang H, Wang D, Yan C, Lu M, Zhou X, Song L, Hui R. Zou Y, et al. Mol Biol Rep. 2013 Jun;40(6):3969-76. doi: 10.1007/s11033-012-2474-2. Epub 2013 Jan 3. Mol Biol Rep. 2013. PMID: 23283745

5

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS. Andreasen C, et al. Eur J Hum Genet. 2013 Sep;21(9):918-28. doi: 10.1038/ejhg.2012.283. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299917 Free PMC article.

6

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA Jr, Fox ER, Newton-Cheh C, Kathiresan S, O'Donnell CJ, Wilson JG, Altshuler DM, Hirschhorn JN, Seidman JG, Seidman C. Bick AG, et al. Am J Hum Genet. 2012 Sep 7;91(3):513-9. doi: 10.1016/j.ajhg.2012.07.017. Am J Hum Genet. 2012. PMID: 22958901 Free PMC article.

7

Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.

Kumar A, Rajendran V, Sethumadhavan R, Purohit R. Kumar A, et al. Gene. 2013 Apr 25;519(1):34-40. doi: 10.1016/j.gene.2013.01.056. Epub 2013 Feb 9. Gene. 2013. PMID: 23403236

8

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE, Leren TP. Berge KE, et al. Clin Genet. 2014 Oct;86(4):355-60. doi: 10.1111/cge.12286. Epub 2013 Oct 23. Clin Genet. 2014. PMID: 24111713

9

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Dorschner MO, et al. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055113 Free PMC article.

10

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P. Teirlinck CH, et al. BMC Med Genet. 2012 Nov 10;13:105. doi: 10.1186/1471-2350-13-105. BMC Med Genet. 2012. PMID: 23140321 Free PMC article.

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