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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: borbas j. Cardiovasc Res. 2021 Jul 7;117(8):1923-1934. doi: 10.1093/cvr/cvaa249. Cardiovasc Res. 2021. PMID: 32810216
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: borbas j. Diagnostics (Basel). 2022 May 3;12(5):1132. doi: 10.3390/diagnostics12051132. Diagnostics (Basel). 2022. PMID: 35626289 Free PMC article.
Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry.
Lopes LR, Losi MA, Sheikh N, Laroche C, Charron P, Gimeno J, Kaski JP, Maggioni AP, Tavazzi L, Arbustini E, Brito D, Celutkiene J, Hagege A, Linhart A, Mogensen J, Garcia-Pinilla JM, Ripoll-Vera T, Seggewiss H, Villacorta E, Caforio A, Elliott PM; Cardiomyopathy Registry Investigators Group. Lopes LR, et al. Eur Heart J Qual Care Clin Outcomes. 2022 Dec 13;9(1):42-53. doi: 10.1093/ehjqcco/qcac006. Eur Heart J Qual Care Clin Outcomes. 2022. PMID: 35138368 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. 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.
12 results