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Year | Number of Results |
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2010 | 1 |
2012 | 2 |
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Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
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
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
Coto E, Reguero JR, Palacín M, Gómez J, Alonso B, Iglesias S, Martín M, Tavira B, Díaz-Molina B, Morales C, Morís C, Rodríguez-Lambert JL, Corao AI, Díaz M, Alvarez V.
Coto E, et al.
J Mol Diagn. 2012 Sep;14(5):518-24. doi: 10.1016/j.jmoldx.2012.04.001. Epub 2012 Jul 2.
J Mol Diagn. 2012.
PMID: 22765922
Free article.
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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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Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ.
Kapplinger JD, et al.
J Cardiovasc Transl Res. 2014 Apr;7(3):347-61. doi: 10.1007/s12265-014-9542-z. Epub 2014 Feb 8.
J Cardiovasc Transl Res. 2014.
PMID: 24510615
Free PMC article.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.
Walsh R, et al.
Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
Genet Med. 2017.
PMID: 27532257
Free PMC article.
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