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Items: 1 to 20 of 322

1.

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team..

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

2.

Role of Titin Missense Variants in Dilated Cardiomyopathy.

Begay RL, Graw S, Sinagra G, Merlo M, Slavov D, Gowan K, Jones KL, Barbati G, Spezzacatene A, Brun F, Di Lenarda A, Smith JE, Granzier HL, Mestroni L, Taylor M; Familial Cardiomyopathy Registry..

J Am Heart Assoc. 2015 Nov 13;4(11). pii: e002645. doi: 10.1161/JAHA.115.002645.

3.

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J.

BMC Med Genet. 2016 Jan 14;17:3. doi: 10.1186/s12881-016-0267-5.

4.

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.

Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM.

Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. doi: 10.1161/CIRCGENETICS.111.961052. Epub 2011 Sep 30.

5.

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.

6.

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

Chami N, Tadros R, Lemarbre F, Lo KS, Beaudoin M, Robb L, Labuda D, Tardif JC, Racine N, Talajic M, Lettre G.

Can J Cardiol. 2014 Dec;30(12):1655-61. doi: 10.1016/j.cjca.2014.09.030. Epub 2014 Oct 2.

PMID:
25448463
7.

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM.

J Am Coll Cardiol. 2009 Sep 1;54(10):930-41. doi: 10.1016/j.jacc.2009.05.038.

8.

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.

Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, Robinson PN.

Eur J Hum Genet. 2013 Oct;21(10):1105-11. doi: 10.1038/ejhg.2013.16. Epub 2013 Mar 6.

9.

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

Waldmüller S, Schroeder C, Sturm M, Scheffold T, Imbrich K, Junker S, Frische C, Hofbeck M, Bauer P, Bonin M, Gawaz M, Gramlich M.

Mol Cell Probes. 2015 Oct;29(5):308-14. doi: 10.1016/j.mcp.2015.05.004. Epub 2015 May 12.

PMID:
25979592
10.

Prevalence of Titin Truncating Variants in General Population.

Akinrinade O, Koskenvuo JW, Alastalo TP.

PLoS One. 2015 Dec 23;10(12):e0145284. doi: 10.1371/journal.pone.0145284. eCollection 2015.

11.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE.

Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.

12.

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

Wells QS, Becker JR, Su YR, Mosley JD, Weeke P, D'Aoust L, Ausborn NL, Ramirez AH, Pfotenhauer JP, Naftilan AJ, Markham L, Exil V, Roden DM, Hong CC.

Circ Cardiovasc Genet. 2013 Aug;6(4):317-26. doi: 10.1161/CIRCGENETICS.113.000011. Epub 2013 Jul 16.

13.

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L.

J Mol Med (Berl). 2006 Jun;84(6):478-83. Epub 2006 May 6.

PMID:
16733766
14.

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

Campbell N, Sinagra G, Jones KL, Slavov D, Gowan K, Merlo M, Carniel E, Fain PR, Aragona P, Di Lenarda A, Mestroni L, Taylor MR.

PLoS One. 2013 Oct 29;8(10):e78104. doi: 10.1371/journal.pone.0078104. eCollection 2013.

15.

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

Long PA, Larsen BT, Evans JM, Olson TM.

J Am Heart Assoc. 2015 Dec 9;4(12). pii: e002443. doi: 10.1161/JAHA.115.002443.

16.

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L.

Nat Genet. 2002 Feb;30(2):201-4. Epub 2002 Jan 14.

PMID:
11788824
17.

Genetic evaluation of dilated cardiomyopathy.

Morales A, Hershberger RE.

Curr Cardiol Rep. 2013 Jul;15(7):375. doi: 10.1007/s11886-013-0375-1. Review.

PMID:
23686784
18.

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

Villard E, Perret C, Gary F, Proust C, Dilanian G, Hengstenberg C, Ruppert V, Arbustini E, Wichter T, Germain M, Dubourg O, Tavazzi L, Aumont MC, DeGroote P, Fauchier L, Trochu JN, Gibelin P, Aupetit JF, Stark K, Erdmann J, Hetzer R, Roberts AM, Barton PJ, Regitz-Zagrosek V; Cardiogenics Consortium., Aslam U, Duboscq-Bidot L, Meyborg M, Maisch B, Madeira H, Waldenström A, Galve E, Cleland JG, Dorent R, Roizes G, Zeller T, Blankenberg S, Goodall AH, Cook S, Tregouet DA, Tiret L, Isnard R, Komajda M, Charron P, Cambien F.

Eur Heart J. 2011 May;32(9):1065-76. doi: 10.1093/eurheartj/ehr105. Epub 2011 Apr 1.

19.

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE; National Heart, Lung and Blood Institute GO Exome Sequencing Project..

Circ Cardiovasc Genet. 2012 Apr 1;5(2):167-74. doi: 10.1161/CIRCGENETICS.111.961805. Epub 2012 Feb 15.

20.

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, Tsai EJ, Hilfiker-Kleiner D, Kamiya CA, Mazzarotto F, Cook SA, Halder I, Prasad SK, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly DF, Wittstein IS, Thohan V, Zucker MJ, Liu P, Gorcsan J 3rd, McNamara DM, Seidman CE, Seidman JG, Arany Z; IMAC-2 and IPAC Investigators..

N Engl J Med. 2016 Jan 21;374(3):233-41. doi: 10.1056/NEJMoa1505517. Epub 2016 Jan 6.

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