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Items: 1 to 20 of 253

1.

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.

2.

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
3.

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.

4.

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.

5.

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.

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.

Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.

Cuneo BF, Etheridge SP, Horigome H, Sallee D, Moon-Grady A, Weng HY, Ackerman MJ, Benson DW.

Circ Arrhythm Electrophysiol. 2013 Oct;6(5):946-51. doi: 10.1161/CIRCEP.113.000618. Epub 2013 Aug 30.

8.

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.

9.

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.

10.

Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.

Grunnet M, Behr ER, Calloe K, Hofman-Bang J, Till J, Christiansen M, McKenna WJ, Olesen SP, Schmitt N.

Heart Rhythm. 2005 Nov;2(11):1238-49.

PMID:
16253915
11.

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.

12.

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Liu W, Yang J, Hu D, Kang C, Li C, Zhang S, Li P, Chen Z, Qin X, Ying K, Li Y, Li Y, Li Z, Cheng X, Li L, Qi Y, Chen S, Wang Q.

Hum Mutat. 2002 Dec;20(6):475-6.

13.

Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations.

Jimmy JJ, Chen CY, Yeh HM, Chiu WY, Yu CC, Liu YB, Tsai CT, Lo LW, Yeh SF, Lai LP.

Chin Med J (Engl). 2014;127(8):1482-6.

15.

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
16.

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.

Ohno S, Zankov DP, Yoshida H, Tsuji K, Makiyama T, Itoh H, Akao M, Hancox JC, Kita T, Horie M.

Heart Rhythm. 2007 Mar;4(3):332-40. Epub 2006 Nov 10.

PMID:
17341399
17.

Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2.

Cordeiro JM, Perez GJ, Schmitt N, Pfeiffer R, Nesterenko VV, Burashnikov E, Veltmann C, Borggrefe M, Wolpert C, Schimpf R, Antzelevitch C.

Can J Physiol Pharmacol. 2010 Dec;88(12):1181-90. doi: 10.1139/Y10-094.

18.

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.

19.

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.

20.

Genetics of long QT syndrome.

Tester DJ, Ackerman MJ.

Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33. Review.

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