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Items: 1 to 20 of 174

1.

Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.

Loporcaro CG, Tester DJ, Maleszewski JJ, Kruisselbrink T, Ackerman MJ.

Arch Pathol Lab Med. 2014 Aug;138(8):1083-9. doi: 10.5858/arpa.2013-0479-SA. Epub 2013 Dec 3.

PMID:
24298987
2.

Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.

Guo Q, Xu Y, Wang X, Guo Y, Xu R, Sun K, Chen S.

DNA Cell Biol. 2014 Oct;33(10):699-704. doi: 10.1089/dna.2014.2483. Epub 2014 Jun 25.

3.

Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes.

Kraft T, Witjas-Paalberends ER, Boontje NM, Tripathi S, Brandis A, Montag J, Hodgkinson JL, Francino A, Navarro-Lopez F, Brenner B, Stienen GJ, van der Velden J.

J Mol Cell Cardiol. 2013 Apr;57:13-22. doi: 10.1016/j.yjmcc.2013.01.001. Epub 2013 Jan 11.

4.

Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.

Narula N, Tester DJ, Paulmichl A, Maleszewski JJ, Ackerman MJ.

Pediatr Cardiol. 2015 Apr;36(4):768-78. doi: 10.1007/s00246-014-1082-4. Epub 2014 Dec 13.

5.

[Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype].

Liu WL, Xie WL, Hu DY, Zhu TG, Li YT, Sun YH, Li CL, Li L, Li TC, Bian H, Tong QG, Yang SN, Fan RY, Cui W.

Zhonghua Xin Xue Guan Bing Za Zhi. 2006 Mar;34(3):202-7. Chinese.

PMID:
16630449
6.

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

Zhao P, Cui HL, He TT, Wang JG, Wang D, Feng XX, Zou YB, Wang YL, Wang JZ, Hui RT, Song L.

Cardiol Young. 2017 Apr;27(3):467-472. doi: 10.1017/S1047951116000731. Epub 2016 May 10.

PMID:
27161882
7.

A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

Wang J, Xu SJ, Zhou H, Wang LJ, Hu B, Fang F, Zhang XM, Luo YW, He XY, Zhuang SW, Li XM, Liu ZM, Hu DY.

Clin Cardiol. 2009 Sep;32(9):E16-21. doi: 10.1002/clc.20520.

8.

[Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing].

Wang C, Wang H, Xu XS, Xu CC, Lai XP, Chen R, Lin HG, Qiu SY.

Fa Yi Xue Za Zhi. 2015 Dec;31(6):436-40, 444. Chinese.

PMID:
27141800
9.

Gene symbol: MYH7.

Iascone MR, Marchetti D, Ferrazzi P.

Hum Genet. 2007 Feb;120(6):915. No abstract available.

PMID:
17438618
10.

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.

Yang J, Zhu M, Wang Y, Hou X, Wu H, Wang D, Shen H, Hu Z, Zou J.

Gene. 2015 Mar 1;558(1):138-42. doi: 10.1016/j.gene.2014.12.061. Epub 2014 Dec 27.

PMID:
25550050
11.

Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.

Guo X, Fan C, Wang Y, Wang M, Cai C, Yang Y, Zhao S, Duan F, Li Y.

Medicine (Baltimore). 2017 Mar;96(11):e6249. doi: 10.1097/MD.0000000000006249.

12.

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.

Song JS, Kang JS, Kim YE, Park SJ, Park KM, Huh J, Kim JS, Cho H, Ki CS, On YK.

J Hum Genet. 2017 Jun;62(6):615-620. doi: 10.1038/jhg.2017.8. Epub 2017 Feb 16.

PMID:
28202948
13.

Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.

Di Domenico M, Casadonte R, Ricci P, Santini M, Frati G, Rizzo A, Carratelli CR, Lamberti M, Parrotta E, Quaresima B, Faniello CM, Costanzo F, Cuda G.

J Cell Physiol. 2012 Oct;227(10):3471-6. doi: 10.1002/jcp.24047.

PMID:
22213221
14.

[Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy].

Feng XL, Fan XP, Yang ZW, Yang FH.

Zhonghua Xin Xue Guan Bing Za Zhi. 2011 Feb;39(2):110-3. Chinese.

PMID:
21426742
15.

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program.

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

16.

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J.

Forensic Sci Int. 2012 Jun 10;219(1-3):33-8. doi: 10.1016/j.forsciint.2011.11.020. Epub 2011 Dec 15.

PMID:
22177269
17.

[The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy].

WANG H, ZOU YB, WANG JZ, SONG L, SUN K, SONG XD, WANG XJ, ZHANG CN, HUI RT.

Zhonghua Xin Xue Guan Bing Za Zhi. 2008 Dec;36(12):1059-62. Chinese.

PMID:
19134269
18.

[The Val606Met mutation of human beta myosin heavy chain in a Chinese familial hypertrophic cardiomyopathy family].

Yuan JS, Qiao SB, Wang SX, Teng SY, You SJ, Yang WX, Gao RL, Chen JL, Yang YJ.

Zhonghua Xin Xue Guan Bing Za Zhi. 2008 Apr;36(4):313-6. Chinese.

PMID:
19100006
19.
20.

Impact of familial hypertrophic cardiomyopathy-linked mutations in the NH2 terminus of the RLC on β-myosin cross-bridge mechanics.

Farman GP, Muthu P, Kazmierczak K, Szczesna-Cordary D, Moore JR.

J Appl Physiol (1985). 2014 Dec 15;117(12):1471-7. doi: 10.1152/japplphysiol.00798.2014. Epub 2014 Oct 16.

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