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Results: 1 to 20 of 139

PubMed for MedGen (Select 436962)

1.

Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

Arad M, Monserrat L, Haron-Khun S, Seidman JG, Seidman CE, Arbustini E, Glikson M, Freimark D.

Isr Med Assoc J. 2014 Nov;16(11):707-13.

2.

Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.

Hodatsu A, Konno T, Hayashi K, Funada A, Fujita T, Nagata Y, Fujino N, Kawashiri MA, Yamagishi M.

Am J Physiol Heart Circ Physiol. 2014 Dec 1;307(11):H1594-604. doi: 10.1152/ajpheart.00637.2013. Epub 2014 Oct 3.

PMID:
25281569
3.

Myostatin regulates energy homeostasis in the heart and prevents heart failure.

Biesemann N, Mendler L, Wietelmann A, Hermann S, Schäfers M, Krüger M, Boettger T, Borchardt T, Braun T.

Circ Res. 2014 Jul 7;115(2):296-310. doi: 10.1161/CIRCRESAHA.115.304185. Epub 2014 May 7.

PMID:
24807786
5.

Early changes in apical rotation in genotype positive children with hypertrophic cardiomyopathy mutations without hypertrophic changes on two-dimensional imaging.

Forsey J, Benson L, Rozenblyum E, Friedberg MK, Mertens L.

J Am Soc Echocardiogr. 2014 Feb;27(2):215-21. doi: 10.1016/j.echo.2013.10.012. Epub 2013 Dec 8.

PMID:
24325958
6.

Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*.

Li AY, Stevens CM, Liang B, Rayani K, Little S, Davis J, Tibbits GF.

PLoS One. 2013 Nov 18;8(11):e79363. doi: 10.1371/journal.pone.0079363. eCollection 2013.

7.

Cardiac transplant in a family pedigree of hypertrophic cardiomyopathy secondary to a mutation in the AMP gene.

Schofield RS, McGarry K, Murphy CL, O'Hare K.

BMJ Case Rep. 2013 Aug 30;2013. pii: bcr2013009929. doi: 10.1136/bcr-2013-009929.

PMID:
23997074
8.

Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes.

Kumar S, Peters S, Thompson T, Morgan N, Maccicoca I, Trainer A, Zentner D, Kalman JM, Winship I, Vohra JK.

Heart Rhythm. 2013 Nov;10(11):1653-60. doi: 10.1016/j.hrthm.2013.08.022. Epub 2013 Aug 22.

PMID:
23973953
9.

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HW, Tesi C, Stienen GJ, Heymans S, Michels M, Poggesi C, van der Velden J.

Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13.

10.

Risk of death in long-term follow-up of patients with apical hypertrophic cardiomyopathy.

Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, Ackerman MJ, Nishimura RA, Tajik AJ, Ommen SR.

Am J Cardiol. 2013 Jun 15;111(12):1784-91. doi: 10.1016/j.amjcard.2013.02.040. Epub 2013 Mar 27. Erratum in: Am J Cardiol. 2013 Oct 15;112(8):1271.

PMID:
23540548
11.

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.

12.

Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.

Fujita E, Nakanishi T, Nishizawa T, Hagiwara N, Matsuoka R.

Heart Vessels. 2013 Nov;28(6):785-94. doi: 10.1007/s00380-013-0332-3. Epub 2013 Mar 14.

13.

Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.

Cordina NM, Liew CK, Gell DA, Fajer PG, Mackay JP, Brown LJ.

Biochemistry. 2013 Mar 19;52(11):1950-62. doi: 10.1021/bi4000172. Epub 2013 Mar 6.

PMID:
23425245
14.

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.

Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H.

Circulation. 2013 Jan 1;127(1):48-54. doi: 10.1161/CIRCULATIONAHA.111.090514. Epub 2012 Nov 28.

15.

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.

16.

Atrioventricular canal defect in patients with RASopathies.

Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B.

Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11.

17.

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL, Towbin JA, Ware SM.

J Card Fail. 2012 May;18(5):396-403. doi: 10.1016/j.cardfail.2012.01.017. Epub 2012 Mar 10.

18.

Hypertrophic cardiomyopathy in the Sphynx cat: a retrospective evaluation of clinical presentation and heritable etiology.

Silverman SJ, Stern JA, Meurs KM.

J Feline Med Surg. 2012 Apr;14(4):246-9. doi: 10.1177/1098612X11435040. Epub 2012 Jan 16.

PMID:
22412161
19.

Truncations of titin causing dilated cardiomyopathy.

Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE.

N Engl J Med. 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186.

20.

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

Page SP, Kounas S, Syrris P, Christiansen M, Frank-Hansen R, Andersen PS, Elliott PM, McKenna WJ.

Circ Cardiovasc Genet. 2012 Apr 1;5(2):156-66. doi: 10.1161/CIRCGENETICS.111.960831. Epub 2012 Jan 20.

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