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Items: 1 to 20 of 106

1.

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Kassem HSh, Azer RS, Saber-Ayad M, Moharem-Elgamal S, Magdy G, Elguindy A, Cecchi F, Olivotto I, Yacoub MH.

J Cardiovasc Transl Res. 2013 Feb;6(1):65-80. doi: 10.1007/s12265-012-9425-0. Epub 2012 Dec 12. Erratum in: J Cardiovasc Transl Res. 2013 Aug;6(4):663. Ayad, Maha S [corrected to Saber-Ayad, Maha].

2.

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.

3.

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
4.

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.

5.

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Roncarati R, Latronico MV, Musumeci B, Aurino S, Torella A, Bang ML, Jotti GS, Puca AA, Volpe M, Nigro V, Autore C, Condorelli G.

J Cell Physiol. 2011 Nov;226(11):2894-900. doi: 10.1002/jcp.22636.

6.

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
7.

Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

Chiou KR, Chu CT, Charng MJ.

J Cardiol. 2015 Mar;65(3):250-6. doi: 10.1016/j.jjcc.2014.05.010. Epub 2014 Jul 30.

8.

[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
9.

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Jaafar N, Gómez J, Kammoun I, Zairi I, Amara WB, Kachboura S, Kraiem S, Hammami M, Iglesias S, Alonso B, Coto E.

Genet Test Mol Biomarkers. 2016 Nov;20(11):674-679. Epub 2016 Aug 30.

PMID:
27574918
10.

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.

11.

Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM.

Selvi Rani D, Nallari P, Dhandapany PS, Rani J, Meraj K, Ganesan M, Narasimhan C, Thangaraj K.

DNA Cell Biol. 2015 May;34(5):350-9. doi: 10.1089/dna.2014.2650. Epub 2015 Jan 21.

PMID:
25607779
12.

Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

Sequeira V, Wijnker PJ, Nijenkamp LL, Kuster DW, Najafi A, Witjas-Paalberends ER, Regan JA, Boontje N, Ten Cate FJ, Germans T, Carrier L, Sadayappan S, van Slegtenhorst MA, Zaremba R, Foster DB, Murphy AM, Poggesi C, Dos Remedios C, Stienen GJ, Ho CY, Michels M, van der Velden J.

Circ Res. 2013 May 24;112(11):1491-505. doi: 10.1161/CIRCRESAHA.111.300436. Epub 2013 Mar 18. Erratum in: Circ Res. 2013 Sep 27;113(8):e87.

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.

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.

15.

[Fabry disease among hypertrophic cardiomyopathy of genetic origin].

Bouvagnet P, Millat G, Rousson R, Gilbert G, Derumeaux G.

Rev Med Interne. 2010 Dec;31 Suppl 2:S233-7. doi: 10.1016/S0248-8663(10)70019-9. French.

PMID:
21211671
16.

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.

17.

[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
18.

Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.

Revera M, Van der Merwe L, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC.

Cardiovasc J Afr. 2007 May-Jun;18(3):146-53.

19.

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Ntusi NA, Shaboodien G, Badri M, Gumedze F, Mayosi BM.

Cardiovasc J Afr. 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075.

20.

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Santos S, Marques V, Pires M, Silveira L, Oliveira H, Lança V, Brito D, Madeira H, Esteves JF, Freitas A, Carreira IM, Gaspar IM, Monteiro C, Fernandes AR.

BMC Med Genet. 2012 Mar 19;13:17. doi: 10.1186/1471-2350-13-17.

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