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Items: 1 to 20 of 160

1.

Cardiac sodium channel gene variants and sudden cardiac death in women.

Albert CM, Nam EG, Rimm EB, Jin HW, Hajjar RJ, Hunter DJ, MacRae CA, Ellinor PT.

Circulation. 2008 Jan 1;117(1):16-23. Epub 2007 Dec 10.

2.

Common variants in cardiac ion channel genes are associated with sudden cardiac death.

Albert CM, MacRae CA, Chasman DI, VanDenburgh M, Buring JE, Manson JE, Cook NR, Newton-Cheh C.

Circ Arrhythm Electrophysiol. 2010 Jun;3(3):222-9. doi: 10.1161/CIRCEP.110.944934. Epub 2010 Apr 17.

3.

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.

Heart Rhythm. 2007 Oct;4(10):1306-14. Epub 2007 Jul 14.

PMID:
17905336
4.

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.

Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.

5.

Investigation of ion channel gene variants in patients with long QT syndrome.

Ernesto C, Cruz FE, Lima FS, Coutinho JL, Silva R, Urményi TP, Carvalho AC, Rondinelli E.

Arq Bras Cardiol. 2011 Mar;96(3):172-8. Epub 2011 Feb 4. English, Portuguese, Spanish.

6.

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O, Sørensen KM, Tybjærg-Hansen A, Ousager LB, Pedersen LN, Frikke-Schmidt R, Aidt FH, Hansen MG, Hansen J, Bloch Thomsen PE, Toft E, Henriksen FL, Bundgaard H, Jensen HK, Kanters JK.

BMC Med Genet. 2014 Mar 7;15:31. doi: 10.1186/1471-2350-15-31.

7.

Cardiac ion channel gene mutations in sudden infant death syndrome.

Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R, Umetsu K, Hayasaka K.

Pediatr Res. 2008 Nov;64(5):482-7. doi: 10.1203/PDR.0b013e3181841eca.

PMID:
18596570
8.

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P; D.E.S.I.R. Study Group..

Eur J Hum Genet. 2005 Nov;13(11):1213-22.

9.

The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.

Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J.

J Cardiovasc Electrophysiol. 2012 Oct;23(10):1092-8. doi: 10.1111/j.1540-8167.2012.02371.x. Epub 2012 Aug 6.

PMID:
22882672
10.

Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.

Koo SH, Teo WS, Ching CK, Chan SH, Lee EJ.

Ann Acad Med Singapore. 2007 Jun;36(6):394-8.

11.

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Liu C, Zhao Q, Su T, Tang S, Lv G, Liu H, Quan L, Cheng J.

Forensic Sci Int. 2013 Sep 10;231(1-3):82-7. doi: 10.1016/j.forsciint.2013.04.020. Epub 2013 May 15.

PMID:
23890619
12.

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Barc J, Briec F, Schmitt S, Kyndt F, Le Cunff M, Baron E, Vieyres C, Sacher F, Redon R, Le Caignec C, Le Marec H, Probst V, Schott JJ.

J Am Coll Cardiol. 2011 Jan 4;57(1):40-7. doi: 10.1016/j.jacc.2010.08.621.

13.

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM.

Circulation. 2002 Apr 23;105(16):1943-8.

14.

Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?

Kiehne N, Kauferstein S.

Forensic Sci Int Genet. 2007 Jun;1(2):170-4. doi: 10.1016/j.fsigen.2007.01.009. Epub 2007 Feb 26.

PMID:
19083750
15.

Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.

Chang YS, Yang YW, Lin YN, Lin KH, Chang KC, Chang JG.

Int Heart J. 2015;56(4):450-3. doi: 10.1536/ihj.14-428. Epub 2015 Jun 26.

16.

Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.

Tester DJ, Cronk LB, Carr JL, Schulz V, Salisbury BA, Judson RS, Ackerman MJ.

Heart Rhythm. 2006 Jul;3(7):815-21. Epub 2006 Mar 16.

PMID:
16818214
17.

Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J.

J Mol Med (Berl). 2004 Mar;82(3):182-8. Epub 2004 Feb 4.

PMID:
14760488
18.

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.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

19.

[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].

Zhao QH, Liu C, Lu LW, Lü GL, Liu H, Tang SB, Quan L, Cheng JD.

Fa Yi Xue Za Zhi. 2012 Oct;28(5):337-41, 346. Chinese.

PMID:
23213782
20.

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S.

JAMA. 2005 Dec 21;294(23):2975-80.

PMID:
16414944

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