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Results: 1 to 20 of 221

1.

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.

J Med Genet. 2005 Oct;42(10):e59.

PMID:
16199542
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

Doolan A, Tebo M, Ingles J, Nguyen L, Tsoutsman T, Lam L, Chiu C, Chung J, Weintraub RG, Semsarian C.

J Mol Cell Cardiol. 2005 Feb;38(2):387-93. Epub 2005 Jan 27.

PMID:
15698845
[PubMed - indexed for MEDLINE]
3.

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Aug 4;44(3):602-10.

PMID:
15358028
[PubMed - indexed for MEDLINE]
Free Article
4.

A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death.

Konno T, Shimizu M, Ino H, Fujino N, Uchiyama K, Mabuchi T, Sakata K, Kaneda T, Fujita T, Masuta E, Mabuchi H.

Clin Sci (Lond). 2006 Jan;110(1):125-31.

PMID:
16181148
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
15519027
[PubMed - indexed for MEDLINE]
Free Article
6.
7.

A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

Konno T, Shimizu M, Ino H, Matsuyama T, Yamaguchi M, Terai H, Hayashi K, Mabuchi T, Kiyama M, Sakata K, Hayashi T, Inoue M, Kaneda T, Mabuchi H.

J Am Coll Cardiol. 2003 Mar 5;41(5):781-6.

PMID:
12628722
[PubMed - indexed for MEDLINE]
Free Article
8.

A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy.

Marian AJ, Kelly D, Mares A Jr, Fitzgibbons J, Caira T, Qun-Tao, Hill R, Perryman MB, Roberts R.

J Sports Med Phys Fitness. 1994 Mar;34(1):1-10.

PMID:
7934006
[PubMed - indexed for MEDLINE]
9.

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.

J Am Coll Cardiol. 2004 Dec 21;44(12):2315-25.

PMID:
15607392
[PubMed - indexed for MEDLINE]
Free Article
10.

Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.

Kokado H, Shimizu M, Yoshio H, Ino H, Okeie K, Emoto Y, Matsuyama T, Yamaguchi M, Yasuda T, Fujino N, Ito H, Mabuchi H.

Circulation. 2000 Aug 8;102(6):663-9.

PMID:
10931807
[PubMed - indexed for MEDLINE]
Free Article
11.

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

Laredo R, Monserrat L, Hermida-Prieto M, Fernández X, Rodríguez I, Cazón L, Alvariño I, Dumont C, Piñón P, Peteiro J, Bouzas B, Castro-Beiras A.

Rev Esp Cardiol. 2006 Oct;59(10):1008-18. Spanish. Erratum in: Rev Esp Cardiol. 2007 May;60(5):557.

PMID:
17125710
[PubMed - indexed for MEDLINE]
Free Article
12.

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, Schulte HD, Aldashev AA, Mirrakhimov MM, Osterziel KJ.

Eur J Hum Genet. 2002 Nov;10(11):741-8.

PMID:
12404107
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ.

Heart. 2003 Oct;89(10):1179-85.

PMID:
12975413
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R.

Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30.

PMID:
20624503
[PubMed - indexed for MEDLINE]
16.

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M.

Heart. 1998 Dec;80(6):548-58. Erratum in: Heart 1999 Mar;81(3):330.

PMID:
10065021
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
20359594
[PubMed - indexed for MEDLINE]
Free Article
18.

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.

Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ.

Circulation. 2002 Dec 10;106(24):3085-90.

PMID:
12473556
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

Kubo T, Gimeno JR, Bahl A, Steffensen U, Steffensen M, Osman E, Thaman R, Mogensen J, Elliott PM, Doi Y, McKenna WJ.

J Am Coll Cardiol. 2007 Jun 26;49(25):2419-26. Epub 2007 Jun 11.

PMID:
17599605
[PubMed - indexed for MEDLINE]
Free Article

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