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Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Among authors: giudicessi jr. Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22. Circ Cardiovasc Genet. 2015. PMID: 25904541 Free PMC article.
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, Tanck MW, Kapplinger JD, Hofman N, Sinner MF, Müller M, Wijnen WJ, Tan HL, Bezzina CR, Creemers EE, Wilde AA, Ackerman MJ, Pinto YM. Amin AS, et al. Among authors: giudicessi jr. Eur Heart J. 2012 Mar;33(6):714-23. doi: 10.1093/eurheartj/ehr473. Epub 2011 Dec 23. Eur Heart J. 2012. PMID: 22199116 Free PMC article.
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Crotti L, et al. Among authors: giudicessi jr. J Am Coll Cardiol. 2012 Oct 9;60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. Epub 2012 Jul 25. J Am Coll Cardiol. 2012. PMID: 22840528 Free PMC article.
110 results