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Items: 1 to 20 of 137


Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Tester DJ, Medeiros-Domingo A, Will ML, Ackerman MJ.

Mayo Clin Proc. 2011 Oct;86(10):941-7. doi: 10.4065/mcp.2011.0373.


Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ.

Mayo Clin Proc. 2012 Jun;87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017.


Pathogenesis of unexplained drowning: new insights from a molecular autopsy.

Tester DJ, Kopplin LJ, Creighton W, Burke AP, Ackerman MJ.

Mayo Clin Proc. 2005 May;80(5):596-600.


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.


Long QT syndrome-associated mutations in intrauterine fetal death.

Crotti L, Tester DJ, White WM, Bartos DC, Insolia R, Besana A, Kunic JD, Will ML, Velasco EJ, Bair JJ, Ghidoni A, Cetin I, Van Dyke DL, Wick MJ, Brost B, Delisle BP, Facchinetti F, George AL, Schwartz PJ, Ackerman MJ.

JAMA. 2013 Apr 10;309(14):1473-82. doi: 10.1001/jama.2013.3219.


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.


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.


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.


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.


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.


Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.


Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

Choi G, Kopplin LJ, Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Circulation. 2004 Oct 12;110(15):2119-24. Epub 2004 Oct 4.


[Gene mutation analysis of a Chinese family of congenital long Q-T syndrome type three].

Shi RM, Ma AQ, Zhang YM, Yang C, Huang C, Zhou XH, Liu XH.

Zhonghua Er Ke Za Zhi. 2009 Dec;47(12):926-30. Chinese.


Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench.

Kato K, Makiyama T, Wu J, Ding WG, Kimura H, Naiki N, Ohno S, Itoh H, Nakanishi T, Matsuura H, Horie M.

J Cardiovasc Electrophysiol. 2014 Jan;25(1):66-73. doi: 10.1111/jce.12270. Epub 2013 Sep 24.


Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.

Tester DJ, Ackerman MJ.

J Am Coll Cardiol. 2007 Jan 16;49(2):240-6. Epub 2006 Dec 29.


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.


Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

Wang D, Shah KR, Um SY, Eng LS, Zhou B, Lin Y, Mitchell AA, Nicaj L, Prinz M, McDonald TV, Sampson BA, Tang Y.

Forensic Sci Int. 2014 Apr;237:90-9. doi: 10.1016/j.forsciint.2014.01.014. Epub 2014 Feb 15.


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.


Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Zhang X, Chen S, Zhang L, Liu M, Redfearn S, Bryant RM, Oberti C, Vincent GM, Wang QK.

BMC Med Genet. 2008 Sep 23;9:87. doi: 10.1186/1471-2350-9-87.

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