9386136 9693036 10973849 12402336 15051636 17905336 19716085 19841300 20186784 22456477 22949429 23995044 24103226 26743238 27485560 27921062 29952348 33256261 36102233[uid] - Search Results

Year	Number of Results
1997	1
1998	1
2000	1
2002	1
2004	1
2007	1
2009	2
2010	1
2012	2
2013	2
2014	1
2016	3
2018	1
2020	1
2022	1
2024	0

1

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, Chivoret G, Schwartz K, Coumel P, Guicheney P. Donger C, et al. Circulation. 1997 Nov 4;96(9):2778-81. doi: 10.1161/01.cir.96.9.2778. Circulation. 1997. PMID: 9386136

2

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT. Splawski I, et al. Genomics. 1998 Jul 1;51(1):86-97. doi: 10.1006/geno.1998.5361. Genomics. 1998. PMID: 9693036

3

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT. Splawski I, et al. Circulation. 2000 Sep 5;102(10):1178-85. doi: 10.1161/01.cir.102.10.1178. Circulation. 2000. PMID: 10973849

4

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H. Jongbloed R, et al. Hum Mutat. 2002 Nov;20(5):382-91. doi: 10.1002/humu.10131. Hum Mutat. 2002. PMID: 12402336

5

Compound mutations: a common cause of severe long-QT syndrome.

Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Westenskow P, et al. Circulation. 2004 Apr 20;109(15):1834-41. doi: 10.1161/01.CIR.0000125524.34234.13. Epub 2004 Mar 29. Circulation. 2004. PMID: 15051636

6

Long QT and Brugada syndrome gene mutations in New Zealand.

Chung SK, MacCormick JM, McCulley CH, Crawford J, Eddy CA, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI. Chung SK, et al. Heart Rhythm. 2007 Oct;4(10):1306-14. doi: 10.1016/j.hrthm.2007.06.022. Epub 2007 Jul 14. Heart Rhythm. 2007. PMID: 17905336

7

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23. Heart Rhythm. 2009. PMID: 19716085 Free PMC article.

8

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ. Kapa S, et al. Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19. Circulation. 2009. PMID: 19841300 Free PMC article.

9

Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

Summers KM, Bokil NJ, Lu FT, Low JT, Baisden JM, Duffy D, Radford DJ. Summers KM, et al. Am J Med Genet A. 2010 Mar;152A(3):613-21. doi: 10.1002/ajmg.a.33274. Am J Med Genet A. 2010. PMID: 20186784

10

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. 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.

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