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Volumn 53, Issue 5, 2010, Pages 261-267

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

(15)  Millat, Gilles a,b   Bouvagnet, Patrice a,b   Chevalier, Philippe b,c   Dauphin, Claire d   Simon Jouk, Pierre e   Da Costa, Antoine f   Prieur, Fabienne g   Bresson, Jean Luc h   Faivre, Laurence i   Eicher, Jean Christophe j   Chassaing, Nicolas k   Crehalet, Hervé a,b   Porcher, Raphael l   Rodriguez Lafrasse, Claire a,b   Rousson, Robert a,b  


Author keywords

Genetic modifiers; Genetic screening; Hypertrophic cardiomyopathy; Molecular diagnosis; Mutations

Indexed keywords

MYOSIN BINDING PROTEIN C; TROPONIN I; TROPONIN T;

EID: 77956941980     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.07.007     Document Type: Article
Times cited : (112)

References (22)
  • 2
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: a new and powerful approach to multiple testing
    • Benjamini Y., Hochberg Y. Controlling the false discovery rate: a new and powerful approach to multiple testing. J. Royal Stat. Soc. Series. B. Stat. Methodol. 1995, 57:289-300.
    • (1995) J. Royal Stat. Soc. Series. B. Stat. Methodol. , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 3
    • 34147201740 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?
    • Bos J.M., Ommen S.R., Ackerman M.J. Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?. Curr. Opin. Cardiol. 2007, 22:193-199.
    • (2007) Curr. Opin. Cardiol. , vol.22 , pp. 193-199
    • Bos, J.M.1    Ommen, S.R.2    Ackerman, M.J.3
  • 7
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
    • e59
    • Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J. Med. Genet. 2005, 42. e59.
    • (2005) J. Med. Genet. , vol.42
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6
  • 9
    • 0031911098 scopus 로고    scopus 로고
    • Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function
    • Kupari M., Hautanen A., Lankinen L., Koskinen P., Virolainen J., Nikkila H., White P.C. Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function. Circulation 1998, 97:569-575.
    • (1998) Circulation , vol.97 , pp. 569-575
    • Kupari, M.1    Hautanen, A.2    Lankinen, L.3    Koskinen, P.4    Virolainen, J.5    Nikkila, H.6    White, P.C.7
  • 10
    • 41749094096 scopus 로고    scopus 로고
    • Genetic determinants of cardiac hypertrophy
    • Marian A.J. Genetic determinants of cardiac hypertrophy. Curr. Opin. Cardiol. 2008, 23:199-205.
    • (2008) Curr. Opin. Cardiol. , vol.23 , pp. 199-205
    • Marian, A.J.1
  • 11
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA study
    • Maron B.J., Gardin J.M., Flack J.M., Gidding S.S., Kurosaki T.T., Bild D.E. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation 1995, 92:785-789.
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 15
    • 0036178004 scopus 로고    scopus 로고
    • Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene
    • Ortlepp J.R., Vosberg H.P., Reith S., Ohme F., Mahon N.G., Schröder D., Klues H.G., Hanrath P., McKenna W.J. Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. Heart 2002, 87:270-275.
    • (2002) Heart , vol.87 , pp. 270-275
    • Ortlepp, J.R.1    Vosberg, H.P.2    Reith, S.3    Ohme, F.4    Mahon, N.G.5    Schröder, D.6    Klues, H.G.7    Hanrath, P.8    McKenna, W.J.9
  • 17
    • 27644562178 scopus 로고    scopus 로고
    • Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy
    • Perkins M.J., Van Driest S.L., Ellsworth E.G., Will M.L., Gersh B.J., Ommen S.R., Ackerman M.J. Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy. Eur. Heart J. 2005, 26:2457-2462.
    • (2005) Eur. Heart J. , vol.26 , pp. 2457-2462
    • Perkins, M.J.1    Van Driest, S.L.2    Ellsworth, E.G.3    Will, M.L.4    Gersh, B.J.5    Ommen, S.R.6    Ackerman, M.J.7
  • 20
    • 0041663609 scopus 로고    scopus 로고
    • Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    • Van Driest S.L., Ellsworth E.G., Ommen S.R., Tajik A.J., Gersh B.J., Ackerman M.J. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 2003, 108:445-451.
    • (2003) Circulation , vol.108 , pp. 445-451
    • Van Driest, S.L.1    Ellsworth, E.G.2    Ommen, S.R.3    Tajik, A.J.4    Gersh, B.J.5    Ackerman, M.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.