Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 93

1.

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

Kumar A, Rajendran V, Sethumadhavan R, Purohit R.

Gene. 2013 Apr 25;519(1):34-40. doi: 10.1016/j.gene.2013.01.056. Epub 2013 Feb 9.

PMID:
23403236
2.

Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations.

Walsh R, Rutland C, Thomas R, Loughna S.

Cardiology. 2010;115(1):49-60. doi: 10.1159/000252808. Epub 2009 Oct 27. Review.

PMID:
19864899
3.

Mutations in sarcomere protein genes in left ventricular noncompaction.

Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L.

Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27.

4.
5.

Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

Seebohm B, Matinmehr F, Köhler J, Francino A, Navarro-Lopéz F, Perrot A, Ozcelik C, McKenna WJ, Brenner B, Kraft T.

Biophys J. 2009 Aug 5;97(3):806-24. doi: 10.1016/j.bpj.2009.05.023.

6.

One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

Hougs L, Havndrup O, Bundgaard H, Køber L, Vuust J, Larsen LA, Christiansen M, Andersen PS.

Eur J Hum Genet. 2005 Feb;13(2):161-5. Erratum in: Eur J Hum Genet. 2005 May;13(5):694.

7.

Computational SNP analysis: current approaches and future prospects.

Kumar A, Rajendran V, Sethumadhavan R, Shukla P, Tiwari S, Purohit R.

Cell Biochem Biophys. 2014 Mar;68(2):233-9. doi: 10.1007/s12013-013-9705-6. Review.

PMID:
23852834
8.

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.

Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR.

Neuromuscul Disord. 2011 Mar;21(3):219-22. doi: 10.1016/j.nmd.2010.12.005. Epub 2011 Jan 5.

PMID:
21211974
9.

[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
10.

Low sequence variation in the gene encoding the human beta-myosin heavy chain.

Freeman K, Nakao K, Leinwand LA.

Genomics. 2001 Aug;76(1-3):73-80.

PMID:
11549319
11.

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
12.

Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Buvoli M, Hamady M, Leinwand LA, Knight R.

Trends Cardiovasc Med. 2008 May;18(4):141-9. doi: 10.1016/j.tcm.2008.04.001. Review. Erratum in: Trends Cardiovasc Med. 2010 May;20(4):141.

13.

Population-based variation in cardiomyopathy genes.

Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM.

Circ Cardiovasc Genet. 2012 Aug 1;5(4):391-9. doi: 10.1161/CIRCGENETICS.112.962928. Epub 2012 Jul 4. Erratum in: Circ Cardiovasc Genet. 2012 Oct 1;5(5):e48.

14.

Gene symbol: MYH7.

Iascone MR, Marchetti D, Ferrazzi P.

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

PMID:
17438618
15.

[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
16.

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.

J Mol Diagn. 2012 Sep;14(5):518-24. doi: 10.1016/j.jmoldx.2012.04.001. Epub 2012 Jul 2.

PMID:
22765922
17.

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A.

Neurology. 2007 Jun 5;68(23):2041-2. No abstract available.

PMID:
17548557
18.

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL, Liu YH, Meng LL, Li CG, Zhou SF.

Basic Clin Pharmacol Toxicol. 2011 Feb;108(2):94-114. doi: 10.1111/j.1742-7843.2010.00627.x. Epub 2010 Sep 6.

19.

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
20.

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB.

Neuromuscul Disord. 2009 Feb;19(2):163-6. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12.

PMID:
19138847

Supplemental Content

Support Center