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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: ackerman mj. Circulation. 2007 Nov 20;116(21):2366-75. doi: 10.1161/CIRCULATIONAHA.107.726950. Epub 2007 Nov 5. Circulation. 2007. PMID: 17984373
Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2.
Buber J, Mathew J, Moss AJ, Hall WJ, Barsheshet A, McNitt S, Robinson JL, Zareba W, Ackerman MJ, Kaufman ES, Luria D, Eldar M, Towbin JA, Vincent M, Goldenberg I. Buber J, et al. Among authors: ackerman mj. Circulation. 2011 Jun 21;123(24):2784-91. doi: 10.1161/CIRCULATIONAHA.110.000620. Epub 2011 May 31. Circulation. 2011. PMID: 21632495 Free PMC article.
Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutation.
Barsheshet A, Moss AJ, McNitt S, Polonsky S, Lopes CM, Zareba W, Robinson JL, Ackerman MJ, Benhorin J, Kaufman ES, Towbin JA, Vincent GM, Qi M, Goldenberg I. Barsheshet A, et al. Among authors: ackerman mj. Circ Cardiovasc Genet. 2011 Oct;4(5):491-9. doi: 10.1161/CIRCGENETICS.111.960179. Epub 2011 Aug 10. Circ Cardiovasc Genet. 2011. PMID: 21831960 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: ackerman mj. 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.
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
Barsheshet A, Goldenberg I, O-Uchi J, Moss AJ, Jons C, Shimizu W, Wilde AA, McNitt S, Peterson DR, Zareba W, Robinson JL, Ackerman MJ, Cypress M, Gray DA, Hofman N, Kanters JK, Kaufman ES, Platonov PG, Qi M, Towbin JA, Vincent GM, Lopes CM. Barsheshet A, et al. Among authors: ackerman mj. Circulation. 2012 Apr 24;125(16):1988-96. doi: 10.1161/CIRCULATIONAHA.111.048041. Epub 2012 Mar 28. Circulation. 2012. PMID: 22456477 Free PMC article.
878 results