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Page 1
Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
Crotti L, Lahtinen AM, Spazzolini C, Mastantuono E, Monti MC, Morassutto C, Parati G, Heradien M, Goosen A, Lichtner P, Meitinger T, Brink PA, Kontula K, Swan H, Schwartz PJ. Crotti L, et al. Among authors: brink pa. Circ Cardiovasc Genet. 2016 Aug;9(4):330-9. doi: 10.1161/CIRCGENETICS.116.001419. Circ Cardiovasc Genet. 2016. PMID: 27531917
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
Crotti L, Spazzolini C, Schwartz PJ, Shimizu W, Denjoy I, Schulze-Bahr E, Zaklyazminskaya EV, Swan H, Ackerman MJ, Moss AJ, Wilde AA, Horie M, Brink PA, Insolia R, De Ferrari GM, Crimi G. Crotti L, et al. Among authors: brink pa. Circulation. 2007 Nov 20;116(21):2366-75. doi: 10.1161/CIRCULATIONAHA.107.726950. Epub 2007 Nov 5. Circulation. 2007. PMID: 17984373
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome.
Schwartz PJ, Vanoli E, Crotti L, Spazzolini C, Ferrandi C, Goosen A, Hedley P, Heradien M, Bacchini S, Turco A, La Rovere MT, Bartoli A, George AL Jr, Brink PA. Schwartz PJ, et al. Among authors: brink pa. J Am Coll Cardiol. 2008 Mar 4;51(9):920-9. doi: 10.1016/j.jacc.2007.09.069. J Am Coll Cardiol. 2008. PMID: 18308161 Free article.
NOS1AP is a genetic modifier of the long-QT syndrome.
Crotti L, Monti MC, Insolia R, Peljto A, Goosen A, Brink PA, Greenberg DA, Schwartz PJ, George AL Jr. Crotti L, et al. Among authors: brink pa. Circulation. 2009 Oct 27;120(17):1657-63. doi: 10.1161/CIRCULATIONAHA.109.879643. Epub 2009 Oct 12. Circulation. 2009. PMID: 19822806 Free PMC article.
Of founder populations, long QT syndrome, and destiny.
Brink PA, Schwartz PJ. Brink PA, et al. Heart Rhythm. 2009 Nov;6(11 Suppl):S25-33. doi: 10.1016/j.hrthm.2009.08.036. Epub 2009 Sep 3. Heart Rhythm. 2009. PMID: 19880070 Free PMC article.
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, Ohno S, Fressart V, Monti MC, Crocamo C, Pedrazzini M, Dagradi F, Vicentini A, Klug D, Brink PA, Goosen A, Swan H, Toivonen L, Lahtinen AM, Kontula K, Shimizu W, Horie M, George AL Jr, Trégouët DA, Guicheney P, Schwartz PJ. Duchatelet S, et al. Among authors: brink pa. Circ Cardiovasc Genet. 2013 Aug;6(4):354-61. doi: 10.1161/CIRCGENETICS.113.000023. Epub 2013 Jul 15. Circ Cardiovasc Genet. 2013. PMID: 23856471 Free PMC article.
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
de Villiers CP, van der Merwe L, Crotti L, Goosen A, George AL Jr, Schwartz PJ, Brink PA, Moolman-Smook JC, Corfield VA. de Villiers CP, et al. Among authors: brink pa. Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2. Circ Cardiovasc Genet. 2014. PMID: 25087618 Free PMC article.
89 results