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Items: 1 to 20 of 169

1.

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.

Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Nieminen MS, Laakso M, Kuusisto J; FinHCM study group., Kervinen H, Mustonen J, Juvonen J, Niemi M, Uusimaa P, Huttunen M, Kotila M, Pietilä M.

Ann Med. 2013 Feb;45(1):85-90. doi: 10.3109/07853890.2012.671534. Epub 2012 Apr 2.

PMID:
22462493
2.

A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Kärkkäinen S, Peuhkurinen K, Nieminen MS, Laakso M; FinHCM Study Group., Kuusisto J.

Ann Med. 2014 Sep;46(6):424-9. doi: 10.3109/07853890.2014.912834. Epub 2014 Jun 3.

PMID:
24888384
3.

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.

Jääskeläinen P, Miettinen R, Kärkkäinen P, Toivonen L, Laakso M, Kuusisto J.

Ann Med. 2004;36(1):23-32. Review.

PMID:
15000344
4.

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.

5.

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, Peltola P, Pihlajamäki J, Vauhkonen I, Laakso M.

J Mol Med (Berl). 2002 Jul;80(7):412-22. Epub 2002 Apr 11.

PMID:
12110947
6.

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
7.

The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.

Jørgenrud B, Jalanko M, Heliö T, Jääskeläinen P, Laine M, Hilvo M, Nieminen MS, Laakso M, Hyötyläinen T, Orešič M, Kuusisto J.

PLoS One. 2015 Aug 12;10(8):e0134184. doi: 10.1371/journal.pone.0134184. eCollection 2015.

8.

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
9.

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.

Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ.

Circulation. 2002 Dec 10;106(24):3085-90.

10.

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.

11.

A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F.

J Cardiovasc Med (Hagerstown). 2006 Aug;7(8):601-7.

PMID:
16858239
12.
13.

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, Frantz E, Fleck E, Hetzer R, Regitz-Zagrosek V.

J Am Coll Cardiol. 2001 Aug;38(2):322-30.

14.

The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

Jääskeläinen P, Soranta M, Miettinen R, Saarinen L, Pihlajamäki J, Silvennoinen K, Tikanoja T, Laakso M, Kuusisto J.

J Am Coll Cardiol. 1998 Nov 15;32(6):1709-16.

15.

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.

Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ.

Rev Port Cardiol. 2005 Dec;24(12):1463-76. English, Portuguese.

16.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.

J Mol Cell Cardiol. 2003 Jun;35(6):623-36.

PMID:
12788380
17.

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

18.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P.

BMC Med Genet. 2012 Nov 10;13:105. doi: 10.1186/1471-2350-13-105.

19.

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

Adalsteinsdottir B, Teekakirikul P, Maron BJ, Burke MA, Gudbjartsson DF, Holm H, Stefansson K, DePalma SR, Mazaika E, McDonough B, Danielsen R, Seidman JG, Seidman CE, Gunnarsson GT.

Circulation. 2014 Sep 30;130(14):1158-67. doi: 10.1161/CIRCULATIONAHA.114.011207. Epub 2014 Jul 30.

20.

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Jaafar N, Gómez J, Kammoun I, Zairi I, Amara WB, Kachboura S, Kraiem S, Hammami M, Iglesias S, Alonso B, Coto E.

Genet Test Mol Biomarkers. 2016 Nov;20(11):674-679. Epub 2016 Aug 30.

PMID:
27574918

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