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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: csanyi b. 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. 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
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: csanyi b. 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
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: csanyi b. Genes (Basel). 2021 Jul 28;12(8):1152. doi: 10.3390/genes12081152. Genes (Basel). 2021. PMID: 34440326 Free PMC article.
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: csanyi b. Diagnostics (Basel). 2022 May 3;12(5):1132. doi: 10.3390/diagnostics12051132. Diagnostics (Basel). 2022. PMID: 35626289 Free PMC article.
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.
Borbás J, Vámos M, Hategan L, Hanák L, Farkas N, Szakács Z, Csupor D, Tél B, Kupó P, Csányi B, Nagy V, Komócsi A, Habon T, Hegyi P, Sepp R. Borbás J, et al. Among authors: csanyi b. Front Cardiovasc Med. 2022 Nov 29;9:1021009. doi: 10.3389/fcvm.2022.1021009. eCollection 2022. Front Cardiovasc Med. 2022. PMID: 36523353 Free PMC article.
Impaired cerebrovascular reactivity correlates with reduced retinal vessel density in patients with carotid artery stenosis: Cross-sectional, single center study.
Magyar-Stang R, István L, Pál H, Csányi B, Gaál A, Mihály Z, Czinege Z, Sótonyi P, Tamás H, Koller A, Bereczki D, Kovács I, Debreczeni R. Magyar-Stang R, et al. Among authors: csanyi b. PLoS One. 2023 Sep 14;18(9):e0291521. doi: 10.1371/journal.pone.0291521. eCollection 2023. PLoS One. 2023. PMID: 37708176 Free PMC article.
33 results