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Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Riuró H, Campuzano O, Berne P, Arbelo E, Iglesias A, Pérez-Serra A, Coll-Vidal M, Partemi S, Mademont-Soler I, Picó F, Allegue C, Oliva A, Gerstenfeld E, Sarquella-Brugada G, Castro-Urda V, Fernández-Lozano I, Mont L, Brugada J, Scornik FS, Brugada R. Riuró H, et al. Among authors: scornik fs. Eur J Hum Genet. 2015 Jan;23(1):79-85. doi: 10.1038/ejhg.2014.54. Epub 2014 Mar 26. Eur J Hum Genet. 2015. PMID: 24667783 Free PMC article.
Genetics and cardiac channelopathies.
Campuzano O, Beltrán-Alvarez P, Iglesias A, Scornik F, Pérez G, Brugada R. Campuzano O, et al. Genet Med. 2010 May;12(5):260-7. doi: 10.1097/GIM.0b013e3181d81636. Genet Med. 2010. PMID: 20386317 Free article. Review.
Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel.
Beltran-Alvarez P, Espejo A, Schmauder R, Beltran C, Mrowka R, Linke T, Batlle M, Pérez-Villa F, Pérez GJ, Scornik FS, Benndorf K, Pagans S, Zimmer T, Brugada R. Beltran-Alvarez P, et al. Among authors: scornik fs. FEBS Lett. 2013 Oct 1;587(19):3159-65. doi: 10.1016/j.febslet.2013.07.043. Epub 2013 Jul 31. FEBS Lett. 2013. PMID: 23912080 Free article.
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.
Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R. Wangüemert F, et al. Among authors: scornik fs. Heart Rhythm. 2015 Jul;12(7):1636-43. doi: 10.1016/j.hrthm.2015.03.033. Epub 2015 Mar 23. Heart Rhythm. 2015. PMID: 25814417
36 results