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Items: 1 to 20 of 109

1.

A new mutational mechanism for hypertrophic cardiomyopathy.

Pezzoli L, Sana ME, Ferrazzi P, Iascone M.

Gene. 2012 Oct 10;507(2):165-9. doi: 10.1016/j.gene.2012.06.097. Epub 2012 Jul 20.

PMID:
22820391
2.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.

J Mol Cell Cardiol. 2003 Jun;35(6):623-36.

PMID:
12788380
3.

[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
4.

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, Peltola P, Pihlajamäki J, Vauhkonen I, Laakso M.

J Mol Med (Berl). 2002 Jul;80(7):412-22. Epub 2002 Apr 11.

PMID:
12110947
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.

Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.

Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G.

Biochem Biophys Res Commun. 2003 Sep 19;309(2):391-8.

PMID:
12951062
7.

[Comparative study of gene mutation between Chinese patients with familial and sporadic hypertrophic cardiomyopathy].

Pan GZ, Liu WL, Hu DY, Xie WL, Zhu TG, Li L, Li CL, Bian H.

Zhonghua Yi Xue Za Zhi. 2006 Nov 14;86(42):2998-3001. Chinese.

PMID:
17288815
8.

[A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].

Xie WL, Liu WL, Hu DY, Cui W, Zhu TG, Li CL, Sun YH, Li L, Bian H.

Zhonghua Yi Xue Za Zhi. 2005 Apr 13;85(14):963-6. Chinese.

PMID:
16061003
9.

A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F.

J Cardiovasc Med (Hagerstown). 2006 Aug;7(8):601-7.

PMID:
16858239
10.

The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy.

Bagnall RD, Yeates L, Semsarian C.

Int J Cardiol. 2010 Nov 5;145(1):150-3. doi: 10.1016/j.ijcard.2009.07.009. Epub 2009 Aug 9.

PMID:
19666196
11.

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, Hainque B, Cruaud C, Gary F, Labeit S, Bouhour JB, Dubourg O, Desnos M, Hagège AA, Trent RJ, Komajda M, Fiszman M, Schwartz K.

Circ Res. 1997 Mar;80(3):427-34.

PMID:
9048664
12.

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

13.

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, Kitaoka H, Nakamura H, Nakamura K, Okamoto H, Ichida F, Ayusawa M, Nunoda S, Isobe M, Matsuzaki M, Doi YL, Fukuda K, Sasaoka T, Izumi T, Ashizawa N, Kimura A.

Circ J. 2012;76(2):453-61. Epub 2011 Nov 23.

14.

Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.

Meyer T, Pankuweit S, Richter A, Maisch B, Ruppert V.

Gene. 2013 Sep 15;527(1):416-20. doi: 10.1016/j.gene.2013.06.025. Epub 2013 Jun 29.

PMID:
23816408
15.

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.

Clin Genet. 2003 Oct;64(4):339-49.

PMID:
12974739
16.

Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.

Kubo T, Kitaoka H, Okawa M, Baba Y, Hirota T, Hayato K, Yamasaki N, Matsumura Y, Otsuka H, Arimura T, Kimura A, Doi YL.

Circ J. 2011;75(11):2654-9. Epub 2011 Jul 29.

17.

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.

Jääskeläinen P, Miettinen R, Kärkkäinen P, Toivonen L, Laakso M, Kuusisto J.

Ann Med. 2004;36(1):23-32. Review.

PMID:
15000344
18.

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.

Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, Alders M, van Hagen JM.

J Med Genet. 2006 Oct;43(10):829-32. Epub 2006 May 5.

19.

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

Frank-Hansen R, Page SP, Syrris P, McKenna WJ, Christiansen M, Andersen PS.

Eur J Hum Genet. 2008 Sep;16(9):1062-9. doi: 10.1038/ejhg.2008.52. Epub 2008 Mar 12.

20.

[Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene].

Zou YB, Wang JZ, Wu GR, Song L, Wang SX, Yu H, Zhang Q, Wang H, Hui RT.

Zhonghua Xin Xue Guan Bing Za Zhi. 2006 Aug;34(8):699-702. Chinese.

PMID:
17081393

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