272 related articles for article (PubMed ID: 20378854)
1. Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
Saltzman AJ; Mancini-DiNardo D; Li C; Chung WK; Ho CY; Hurst S; Wynn J; Care M; Hamilton RM; Seidman GW; Gorham J; McDonough B; Sparks E; Seidman JG; Seidman CE; Rehm HL
Circ Res; 2010 May; 106(9):1549-52. PubMed ID: 20378854
[TBL] [Abstract][Full Text] [Related]
2. Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.
Méndez I; Fernández AI; Espinosa MÁ; Cuenca S; Lorca R; Rodríguez JF; Tamargo M; García-Montero M; Gómez C; Vilches S; Vázquez N; Álvarez R; Medrano C; Yotti R; Fernández-Avilés F; Bermejo J
Open Heart; 2021 Sep; 8(2):. PubMed ID: 34588271
[TBL] [Abstract][Full Text] [Related]
3. 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; 130(14):1158-67. PubMed ID: 25078086
[TBL] [Abstract][Full Text] [Related]
4. A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
Calore C; De Bortoli M; Romualdi C; Lorenzon A; Angelini A; Basso C; Thiene G; Iliceto S; Rampazzo A; Melacini P
J Med Genet; 2015 May; 52(5):338-47. PubMed ID: 25740977
[TBL] [Abstract][Full Text] [Related]
5. Gender- and age-related differences in distinct phenotypes of hypertrophic cardiomyopathy-associated mutation MYBPC3-E334K.
Yang QL; Zuo L; Ma ZL; Lei CH; Zhu XL; Wang XY; Wang B; Zhao XL; Zhang J; Wang Y; Zhang YM; Liu LW
Heart Vessels; 2021 Oct; 36(10):1525-1535. PubMed ID: 33830315
[TBL] [Abstract][Full Text] [Related]
6. Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families.
Yang QL; Bian YY; Wang B; Zuo L; Zhou MY; Shao H; Zhang YM; Liu LW
J Cardiol; 2019 May; 73(5):438-444. PubMed ID: 30600190
[TBL] [Abstract][Full Text] [Related]
7. 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; 44(9):1903-10. PubMed ID: 15519027
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 11499719
[TBL] [Abstract][Full Text] [Related]
9. 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; 307(11):H1594-604. PubMed ID: 25281569
[TBL] [Abstract][Full Text] [Related]
10. Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
Viswanathan SK; Sanders HK; McNamara JW; Jagadeesan A; Jahangir A; Tajik AJ; Sadayappan S
PLoS One; 2017; 12(11):e0187948. PubMed ID: 29121657
[TBL] [Abstract][Full Text] [Related]
11. Reevaluation of the South Asian
Harper AR; Bowman M; Hayesmoore JBG; Sage H; Salatino S; Blair E; Campbell C; Currie B; Goel A; McGuire K; Ormondroyd E; Sergeant K; Waring A; Woodley J; Kramer CM; Neubauer S; Farrall M; Watkins H; Thomson KL;
Circ Genom Precis Med; 2020 Jun; 13(3):e002783. PubMed ID: 32163302
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12788380
[TBL] [Abstract][Full Text] [Related]
13. Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.
van Velzen HG; Schinkel AFL; Oldenburg RA; van Slegtenhorst MA; Frohn-Mulder IME; van der Velden J; Michels M
Circ Cardiovasc Genet; 2017 Aug; 10(4):. PubMed ID: 28794111
[TBL] [Abstract][Full Text] [Related]
14. Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC; Pereira AC; Moon JC; Captur G; Ho CY
Circulation; 2024 Jan; 149(2):107-123. PubMed ID: 37929589
[TBL] [Abstract][Full Text] [Related]
15. Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.
Fujino N; Konno T; Hayashi K; Hodatsu A; Fujita T; Tsuda T; Nagata Y; Kawashiri MA; Ino H; Yamagishi M
Clin Cardiol; 2013 Mar; 36(3):160-5. PubMed ID: 23197398
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 16566405
[TBL] [Abstract][Full Text] [Related]
17. [Comparative study of gene mutation between Chinese patients with familial and sporadic hypertrophic cardiomyopathy].
Pan GZ; Liu WL; Hu DY; Xie WL; Zhu TG; Li L; Li CL; Bian H
Zhonghua Yi Xue Za Zhi; 2006 Nov; 86(42):2998-3001. PubMed ID: 17288815
[TBL] [Abstract][Full Text] [Related]
18. Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
Field E; Norrish G; Acquaah V; Dady K; Cicerchia MN; Ochoa JP; Syrris P; McLeod K; McGowan R; Fell H; Lopes LR; Cervi E; Kaski JPP
J Med Genet; 2022 Aug; 59(8):768-775. PubMed ID: 34400558
[TBL] [Abstract][Full Text] [Related]
19. Hypertrophic cardiomyopathy in myosin-binding protein C (
Adalsteinsdottir B; Burke M; Maron BJ; Danielsen R; Lopez B; Diez J; Jarolim P; Seidman J; Seidman CE; Ho CY; Gunnarsson GT
Open Heart; 2020; 7(1):e001220. PubMed ID: 32341788
[TBL] [Abstract][Full Text] [Related]
20. Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Janin A; Chanavat V; Rollat-Farnier PA; Bardel C; Nguyen K; Chevalier P; Eicher JC; Faivre L; Piard J; Albert E; Nony S; Millat G
Hum Mutat; 2020 Feb; 41(2):465-475. PubMed ID: 31730716
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
