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The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R, Hategan L, Csányi B, Borbás J, Tringer A, Pálinkás ED, Nagy V, Takács H, Latinovics D, Nyolczas N, Pálinkás A, Faludi R, Rábai M, Szabó GT, Czuriga D, Balogh L, Halmosi R, Borbély A, Habon T, Hegedűs Z, Nagy I. Sepp R, et al. Among authors: nagy i, nagy v. Diagnostics (Basel). 2022 May 3;12(5):1132. doi: 10.3390/diagnostics12051132. Diagnostics (Basel). 2022. PMID: 35626289 Free PMC article.
A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.
Hategan L, Csányi B, Ördög B, Kákonyi K, Tringer A, Kiss O, Orosz A, Sághy L, Nagy I, Hegedűs Z, Rudas L, Széll M, Varró A, Forster T, Sepp R. Hategan L, et al. Among authors: nagy i. Int J Cardiol. 2017 Aug 15;241:364-372. doi: 10.1016/j.ijcard.2017.04.058. Epub 2017 Apr 20. Int J Cardiol. 2017. PMID: 28465117
Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Déri S, Borbás J, Hartai T, Hategan L, Csányi B, Visnyovszki Á, Madácsy T, Maléth J, Hegedűs Z, Nagy I, Arora R, Labro AJ, Környei L, Varró A, Sepp R, Ördög B. Déri S, et al. Among authors: nagy i. Cardiovasc Res. 2021 Jul 7;117(8):1923-1934. doi: 10.1093/cvr/cvaa249. Cardiovasc Res. 2021. PMID: 32810216
720 results