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Results: 1 to 20 of 32

1.

Role of cardiac magnetic resonance in the evaluation of dilated cardiomyopathy: diagnostic contribution and prognostic significance.

Francone M.

ISRN Radiol. 2014 Feb 4;2014:365404. doi: 10.1155/2014/365404. eCollection 2014. Review.

PMID:
24967294
[PubMed]
Free PMC Article
2.

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM.

Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. No abstract available.

PMID:
24387990
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH.

Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.

PMID:
23975875
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Single nucleotide polymorphisms associated with non-contact soft tissue injuries in elite professional soccer players: influence on degree of injury and recovery time.

Pruna R, Artells R, Ribas J, Montoro B, Cos F, Muñoz C, Rodas G, Maffulli N.

BMC Musculoskelet Disord. 2013 Jul 26;14:221. doi: 10.1186/1471-2474-14-221.

PMID:
23890452
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
23463027
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Titin is a major human disease gene.

LeWinter MM, Granzier HL.

Circulation. 2013 Feb 26;127(8):938-44. doi: 10.1161/CIRCULATIONAHA.112.139717. Review. No abstract available.

PMID:
23439446
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Repeat or not repeat?--Statistical validation of tandem repeat prediction in genomic sequences.

Schaper E, Kajava AV, Hauser A, Anisimova M.

Nucleic Acids Res. 2012 Nov 1;40(20):10005-17. doi: 10.1093/nar/gks726. Epub 2012 Aug 25.

PMID:
22923522
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S; German Competence Network Heart Failure.

Eur J Hum Genet. 2013 Mar;21(3):294-300. doi: 10.1038/ejhg.2012.173. Epub 2012 Aug 15.

PMID:
22892539
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The mutations associated with dilated cardiomyopathy.

Parvari R, Levitas A.

Biochem Res Int. 2012;2012:639250. doi: 10.1155/2012/639250. Epub 2012 Jul 9.

PMID:
22830024
[PubMed]
Free PMC Article
10.

A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics.

Raskin A, Lange S, Banares K, Lyon RC, Zieseniss A, Lee LK, Yamazaki KG, Granzier HL, Gregorio CC, McCulloch AD, Omens JH, Sheikh F.

J Biol Chem. 2012 Aug 24;287(35):29273-84. doi: 10.1074/jbc.M112.372839. Epub 2012 Jul 9.

PMID:
22778266
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.

Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M.

Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693.

PMID:
22466703
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Finding consistent disease subnetworks across microarray datasets.

Soh D, Dong D, Guo Y, Wong L.

BMC Bioinformatics. 2011 Nov 30;12 Suppl 13:S15. doi: 10.1186/1471-2105-12-S13-S15. Epub 2011 Nov 30.

PMID:
22372958
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L.

Circulation. 2011 Aug 23;124(8):876-85. doi: 10.1161/CIRCULATIONAHA.110.005405. Epub 2011 Aug 1.

PMID:
21810661
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Genetics of mechanosensation in the heart.

Buyandelger B, Ng KE, Miocic S, Gunkel S, Piotrowska I, Ku CH, Knöll R.

J Cardiovasc Transl Res. 2011 Jun;4(3):238-44. doi: 10.1007/s12265-011-9262-6. Epub 2011 Mar 1. Review.

PMID:
21360311
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genome-wide association analysis identifies multiple loci related to resting heart rate.

Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Müller M, Morrison AC, Smith AV, Isaacs A, Sanna S, Dörr M, Navarro P, Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC, Rückert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F, Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA, Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C, Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D, Völzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM, Wichmann HE, Harris TB, Kääb S, Siscovick DS, Jamshidi Y, Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW, Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB, Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E, O'Donnell CJ.

Hum Mol Genet. 2010 Oct 1;19(19):3885-94. doi: 10.1093/hmg/ddq303. Epub 2010 Jul 16.

PMID:
20639392
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Extensive and modular intrinsically disordered segments in C. elegans TTN-1 and implications in filament binding, elasticity and oblique striation.

Forbes JG, Flaherty DB, Ma K, Qadota H, Benian GM, Wang K.

J Mol Biol. 2010 May 21;398(5):672-89. doi: 10.1016/j.jmb.2010.03.032. Epub 2010 Mar 25.

PMID:
20346955
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The genetics of dilated cardiomyopathy.

Dellefave L, McNally EM.

Curr Opin Cardiol. 2010 May;25(3):198-204. doi: 10.1097/HCO.0b013e328337ba52. Review.

PMID:
20186049
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Muscle giants: molecular scaffolds in sarcomerogenesis.

Kontrogianni-Konstantopoulos A, Ackermann MA, Bowman AL, Yap SV, Bloch RJ.

Physiol Rev. 2009 Oct;89(4):1217-67. doi: 10.1152/physrev.00017.2009. Review.

PMID:
19789381
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?

Mestroni L.

J Am Coll Cardiol. 2009 Jul 21;54(4):343-5. doi: 10.1016/j.jacc.2009.04.029. No abstract available.

PMID:
19608032
[PubMed - indexed for MEDLINE]
Free PMC Article

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