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Results: 1 to 20 of 125

1.

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.

PMID:
21964171
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
22677073
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
15887426
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
23571586
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
19716085
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

Tester DJ, Kopplin LJ, Will ML, Ackerman MJ.

Heart Rhythm. 2005 Oct;2(10):1099-105.

PMID:
16188589
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
17222736
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
15466642
[PubMed - indexed for MEDLINE]
Free Article
10.

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ.

J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.

PMID:
19926015
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
21308345
[PubMed - indexed for MEDLINE]
Free Article
12.

Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.

Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ.

Mayo Clin Proc. 2004 Nov;79(11):1380-4.

PMID:
15544015
[PubMed - indexed for MEDLINE]
13.

Postmortem molecular analysis for fatal arrhythmogenic disease in sudden unexplained death.

Nishio H, Suzuki K.

Leg Med (Tokyo). 2009 Apr;11 Suppl 1:S119-20. doi: 10.1016/j.legalmed.2009.01.031. Epub 2009 Mar 3.

PMID:
19261510
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
18808722
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

Tester DJ, Arya P, Will M, Haglund CM, Farley AL, Makielski JC, Ackerman MJ.

Heart Rhythm. 2006 Jul;3(7):800-5. Epub 2006 Mar 28.

PMID:
16818210
[PubMed - indexed for MEDLINE]
16.

Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

Ackerman MJ, Tester DJ, Porter CJ.

Mayo Clin Proc. 1999 Nov;74(11):1088-94.

PMID:
10560595
[PubMed - indexed for MEDLINE]
17.

Posthumous diagnosis of long QT syndrome from neonatal screening cards.

Gladding PA, Evans CA, Crawford J, Chung SK, Vaughan A, Webster D, Neas K, Love DR, Rees MI, Shelling AN, Skinner JR.

Heart Rhythm. 2010 Apr;7(4):481-6. doi: 10.1016/j.hrthm.2009.12.023. Epub 2010 Jan 4.

PMID:
20167303
[PubMed - indexed for MEDLINE]
18.

Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing.

Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ.

Am J Cardiol. 2010 Oct 15;106(8):1124-8. doi: 10.1016/j.amjcard.2010.06.022.

PMID:
20920651
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.

Eddy CA, MacCormick JM, Chung SK, Crawford JR, Love DR, Rees MI, Skinner JR, Shelling AN.

Heart Rhythm. 2008 Sep;5(9):1275-81. doi: 10.1016/j.hrthm.2008.05.033. Epub 2008 Jun 4.

PMID:
18774102
[PubMed - indexed for MEDLINE]
20.

Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.

Shinwari ZM, Al-Hazzani A, Dzimiri N, Tulbah S, Mallawi Y, Al-Fayyadh M, Al-Hassnan ZN.

Clin Genet. 2013 Apr;83(4):370-4. doi: 10.1111/j.1399-0004.2012.01914.x. Epub 2012 Jul 10.

PMID:
22708720
[PubMed - indexed for MEDLINE]

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