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Results: 1 to 20 of 137

1.

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Özcelik C.

PLoS One. 2011;6(12):e28872. doi: 10.1371/journal.pone.0028872. Epub 2011 Dec 14.

PMID:
22194935
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
22112859
[PubMed - indexed for MEDLINE]
Free Article
3.

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J.

Hum Mol Genet. 2010 Oct 15;19(20):4007-16. doi: 10.1093/hmg/ddq315. Epub 2010 Jul 23.

PMID:
20656787
[PubMed - indexed for MEDLINE]
Free Article
4.

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]
5.

Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

Merlo M, Sinagra G, Carniel E, Slavov D, Zhu X, Barbati G, Spezzacatene A, Ramani F, Salcedo E, Di Lenarda A, Mestroni L, Taylor MR; Familial Cardiomyopathy Registry.

Clin Transl Sci. 2013 Dec;6(6):424-8. doi: 10.1111/cts.12116. Epub 2013 Oct 3.

PMID:
24119082
[PubMed - indexed for MEDLINE]
6.

Molecular genetics of congenital atrial septal defects.

Posch MG, Perrot A, Berger F, Ozcelik C.

Clin Res Cardiol. 2010 Mar;99(3):137-47. doi: 10.1007/s00392-009-0095-0. Epub 2009 Dec 11. Review.

PMID:
20012542
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutation in myosin heavy chain 6 causes atrial septal defect.

Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD.

Nat Genet. 2005 Apr;37(4):423-8. Epub 2005 Feb 27.

PMID:
15735645
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
23782526
[PubMed - indexed for MEDLINE]
Free Article
9.

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, Deanfield JE, McKenna WJ, Elliott PM.

Circ Cardiovasc Genet. 2009 Oct;2(5):436-41. doi: 10.1161/CIRCGENETICS.108.821314. Epub 2009 Jul 16.

PMID:
20031618
[PubMed - indexed for MEDLINE]
Free Article
10.

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]
11.

[Familial hypertrophic cardiomyopathy: genes, mutations and animal models. A review].

Ramírez CD, Padrón R.

Invest Clin. 2004 Mar;45(1):69-99. Review. Spanish.

PMID:
15058760
[PubMed - indexed for MEDLINE]
12.

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.

Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L.

Circulation. 2005 Jul 5;112(1):54-9.

PMID:
15998695
[PubMed - indexed for MEDLINE]
Free Article
13.

[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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
21302287
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J.

Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9.

PMID:
20215591
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Mutations in genes for sarcomeric proteins].

Kimura A.

Nihon Rinsho. 2000 Jan;58(1):117-22. Review. Japanese.

PMID:
10885298
[PubMed - indexed for MEDLINE]
17.

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Mégarbané A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C.

J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16.

PMID:
19762328
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutations in sarcomere protein genes in left ventricular noncompaction.

Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L.

Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27.

PMID:
18506004
[PubMed - indexed for MEDLINE]
Free Article
19.

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S.

Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2.

PMID:
21127202
[PubMed - indexed for MEDLINE]
Free Article
20.

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

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