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Page 1
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. Diagnostics (Basel). 2022 May 3;12(5):1132. doi: 10.3390/diagnostics12051132. Diagnostics (Basel). 2022. PMID: 35626289 Free PMC article.
Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features.
Pozsonyi Z, Peskó G, Takács H, Csuka D, Nagy V, Szilágyi Á, Hategan L, Muk B, Csányi B, Nyolczas N, Dézsi L, Molnár JM, Csillik A, Révész K, Iványi B, Szabó F, Birtalan K, Masszi T, Arányi Z, Sepp R. Pozsonyi Z, et al. Among authors: sepp r. Genes (Basel). 2021 Jul 28;12(8):1152. doi: 10.3390/genes12081152. Genes (Basel). 2021. PMID: 34440326 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: sepp r. 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: sepp r. Cardiovasc Res. 2021 Jul 7;117(8):1923-1934. doi: 10.1093/cvr/cvaa249. Cardiovasc Res. 2021. PMID: 32810216
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
Csányi B, Popoiu A, Hategan L, Hegedűs Z, Nagy V, Rácz K, Hőgye M, Sághy L, Iványi B, Csanády M, Forster T, Sepp R. Csányi B, et al. Among authors: sepp r. Can J Cardiol. 2016 Nov;32(11):1355.e23-1355.e30. doi: 10.1016/j.cjca.2016.02.071. Epub 2016 Mar 4. Can J Cardiol. 2016. PMID: 27179547
Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.
Ördög B, Hategan L, Kovács M, Seprényi G, Kohajda Z, Nagy I, Hegedűs Z, Környei L, Jost N, Katona M, Szekeres M, Forster T, Papp JG, Varró A, Sepp R. Ördög B, et al. Among authors: sepp r. Can J Physiol Pharmacol. 2015 Jul;93(7):569-75. doi: 10.1139/cjpp-2014-0527. Epub 2015 Apr 17. Can J Physiol Pharmacol. 2015. PMID: 26103554
57 results