These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. 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]
7. 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. PubMed ID: 12110947 [TBL] [Abstract][Full Text] [Related]
8. Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene. Hallıoğlu Kılınç O; Giray D; Bişgin A; Tuğ Bozdoğan S; Karpuz D Turk Kardiyol Dern Ars; 2017 Jul; 45(5):450-453. PubMed ID: 28694399 [TBL] [Abstract][Full Text] [Related]
9. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. Ehlermann P; Weichenhan D; Zehelein J; Steen H; Pribe R; Zeller R; Lehrke S; Zugck C; Ivandic BT; Katus HA BMC Med Genet; 2008 Oct; 9():95. PubMed ID: 18957093 [TBL] [Abstract][Full Text] [Related]
10. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3. Oliva-Sandoval MJ; Ruiz-Espejo F; Monserrat L; Hermida-Prieto M; Sabater M; García-Molina E; Ortiz M; Rodríguez-García MI; Núñez L; Gimeno JR; Castro-Beiras A; Valdés M Heart; 2010 Dec; 96(24):1980-4. PubMed ID: 21088121 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Cryptic Splice-Altering Variants in Lopes LR; Barbosa P; Torrado M; Quinn E; Merino A; Ochoa JP; Jager J; Futema M; Carmo-Fonseca M; Monserrat L; Syrris P; Elliott PM Circ Genom Precis Med; 2020 Jun; 13(3):e002905. PubMed ID: 32396390 [No Abstract] [Full Text] [Related]
13. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Nanni L; Pieroni M; Chimenti C; Simionati B; Zimbello R; Maseri A; Frustaci A; Lanfranchi G Biochem Biophys Res Commun; 2003 Sep; 309(2):391-8. PubMed ID: 12951062 [TBL] [Abstract][Full Text] [Related]
14. Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. Meyer T; Pankuweit S; Richter A; Maisch B; Ruppert V Gene; 2013 Sep; 527(1):416-20. PubMed ID: 23816408 [TBL] [Abstract][Full Text] [Related]
15. Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. Weissler-Snir A; Hindieh W; Gruner C; Fourey D; Appelbaum E; Rowin E; Care M; Lesser JR; Haas TS; Udelson JE; Manning WJ; Olivotto I; Tomberli B; Maron BJ; Maron MS; Crean AM; Rakowski H; Chan RH Circ Cardiovasc Imaging; 2017 Feb; 10(2):. PubMed ID: 28193612 [TBL] [Abstract][Full Text] [Related]
16. Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. Xin B; Puffenberger E; Tumbush J; Bockoven JR; Wang H Am J Med Genet A; 2007 Nov; 143A(22):2662-7. PubMed ID: 17937428 [TBL] [Abstract][Full Text] [Related]
17. A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. Marziliano N; Merlini PA; Vignati G; Orsini F; Motta V; Bandiera L; Intrieri M; Veronese S Neonatology; 2012; 102(4):254-8. PubMed ID: 22907696 [TBL] [Abstract][Full Text] [Related]
18. Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations. Frank-Hansen R; Page SP; Syrris P; McKenna WJ; Christiansen M; Andersen PS Eur J Hum Genet; 2008 Sep; 16(9):1062-9. PubMed ID: 18337725 [TBL] [Abstract][Full Text] [Related]
19. A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain. Sabater-Molina M; Saura D; García-Molina Sáez E; González-Carrillo J; Polo L; Pérez-Sánchez I; Olmo MDC; Oliva-Sandoval MJ; Barriales-Villa R; Carbonell P; Pascual-Figal D; Gimeno JR Rev Esp Cardiol (Engl Ed); 2017 Feb; 70(2):105-114. PubMed ID: 28029522 [TBL] [Abstract][Full Text] [Related]