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Items: 1 to 20 of 149

1.

A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.

Lopes LR, Rahman MS, Elliott PM.

Heart. 2013 Dec;99(24):1800-11. doi: 10.1136/heartjnl-2013-303939. Epub 2013 May 14. Review.

PMID:
23674365
2.

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.

3.

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.

4.

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

Marsiglia JD, Credidio FL, de Oliveira TG, Reis RF, Antunes Mde O, de Araujo AQ, Pedrosa RP, Barbosa-Ferreira JM, Mady C, Krieger JE, Arteaga-Fernandez E, Pereira Ada C.

Am Heart J. 2013 Oct;166(4):775-82. doi: 10.1016/j.ahj.2013.07.029. Epub 2013 Sep 18.

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.

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
7.

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.

Maron BJ, Maron MS, Semsarian C.

J Am Coll Cardiol. 2012 Aug 21;60(8):705-15. doi: 10.1016/j.jacc.2012.02.068. Epub 2012 Jul 11. Review.

8.

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.

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.

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Özcelik C, Osterziel KJ, Loeffler M, Maisch B, Regitz-Zagrosek V, Schunkert H, Scheffold T; German Competence Network Heart Failure.

Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi: 10.1093/eurjhf/hfr074. Epub 2011 Jul 12.

11.

[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
12.

Sudden death due to troponin T mutations.

Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, Watkins H.

J Am Coll Cardiol. 1997 Mar 1;29(3):549-55.

13.

[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
14.

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.

15.

Genetic basis of end-stage hypertrophic cardiomyopathy.

Garcia-Pavia P, Vázquez ME, Segovia J, Salas C, Avellana P, Gómez-Bueno M, Vilches C, Gallardo ME, Garesse R, Molano J, Bornstein B, Alonso-Pulpon L.

Eur J Heart Fail. 2011 Nov;13(11):1193-201. doi: 10.1093/eurjhf/hfr110. Epub 2011 Sep 6.

16.

[Mutation and clinical relevance in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy].

Jie L, Wenling L, Dayi H, Tiangang Z, Wen L, Zhanfeng M, Jie Y, Wenli X, Cuilan L, Lei L, Guozhong P.

Zhonghua Xin Xue Guan Bing Za Zhi. 2015 Aug;43(8):682-9. Chinese.

PMID:
26955724
17.

Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.

Chida A, Inai K, Sato H, Shimada E, Nishizawa T, Shimada M, Furutani M, Furutani Y, Kawamura Y, Sugimoto M, Ishihara J, Fujiwara M, Soga T, Kawana M, Fuji S, Tateno S, Kuraishi K, Kogaki S, Nishimura M, Ayusawa M, Ichida F, Yamazawa H, Matsuoka R, Nonoyama S, Nakanishi T.

Heart Vessels. 2017 Jun;32(6):700-707. doi: 10.1007/s00380-016-0920-0. Epub 2016 Nov 24.

PMID:
27885498
18.

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

Núñez L, Gimeno-Blanes JR, Rodríguez-García MI, Monserrat L, Zorio E, Coats C, McGregor CG, Hernandez del Rincón JP, Castro-Beiras A, Hermida-Prieto M.

Circ J. 2013;77(9):2358-65. Epub 2013 Jun 19.

19.

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.

Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ.

Rev Port Cardiol. 2005 Dec;24(12):1463-76. English, Portuguese.

20.

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

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