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Items: 1 to 20 of 190

1.

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project..

Circulation. 2003 May 6;107(17):2227-32. Erratum in: Circulation. 2004 Jun 29;109(25):3258.

2.

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
3.

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.

4.

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ, Olivotto I.

J Am Coll Cardiol. 2010 Apr 6;55(14):1444-53. doi: 10.1016/j.jacc.2009.11.062.

5.

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H.

Hum Mutat. 2009 Mar;30(3):363-70. doi: 10.1002/humu.20862.

PMID:
19035361
6.

[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
7.

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
8.

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M.

Eur Heart J. 2005 Apr;26(8):794-803.

9.

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
10.

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL.

Hum Mutat. 2008 Jun;29(6):879-85. doi: 10.1002/humu.20749.

PMID:
18409188
11.

Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.

Choi JO, Yu CW, Chun Nah J, Rang Park J, Lee BS, Jeong Choi Y, Cho BR, Lee SC, Woo Park S, Kimura A, Euy Park J.

Clin Cardiol. 2010 Jul;33(7):430-8. doi: 10.1002/clc.20795.

12.

[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
13.

Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting.

Santos S, Lança V, Oliveira H, Branco P, Silveira L, Marques V, Brito D, Madeira H, Bicho M, Fernandes AR.

Rev Port Cardiol. 2011 Jan;30(1):7-18.

14.

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, Deanfield JE, McKenna WJ, Elliott PM.

Circ Cardiovasc Genet. 2009 Oct;2(5):436-41. doi: 10.1161/CIRCGENETICS.108.821314.

15.

[Familial hypertrophic cardiomyopathy: genes, mutations and animal models. A review].

Ramírez CD, Padrón R.

Invest Clin. 2004 Mar;45(1):69-99. Review. Spanish.

PMID:
15058760
16.

A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.

Bashyam MD, Purushotham G, Chaudhary AK, Rao KM, Acharya V, Mohammad TA, Nagarajaram HA, Hariram V, Narasimhan C.

Mol Cell Biochem. 2012 Jan;360(1-2):373-82. doi: 10.1007/s11010-011-1077-x.

PMID:
21959974
17.

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.

18.

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
19.

[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
20.

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, Vuust J, Kjeldsen K, Christiansen M.

Cardiovasc Res. 2003 Feb;57(2):347-57.

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