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Items: 1 to 20 of 90

1.

Genotype-phenotype aspects of type 2 long QT syndrome.

Shimizu W, Moss AJ, Wilde AA, Towbin JA, Ackerman MJ, January CT, Tester DJ, Zareba W, Robinson JL, Qi M, Vincent GM, Kaufman ES, Hofman N, Noda T, Kamakura S, Miyamoto Y, Shah S, Amin V, Goldenberg I, Andrews ML, McNitt S.

J Am Coll Cardiol. 2009 Nov 24;54(22):2052-62. doi: 10.1016/j.jacc.2009.08.028.

2.

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.

Circulation. 2007 May 15;115(19):2481-9. Epub 2007 Apr 30.

3.

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

Moss AJ, Zareba W, Kaufman ES, Gartman E, Peterson DR, Benhorin J, Towbin JA, Keating MT, Priori SG, Schwartz PJ, Vincent GM, Robinson JL, Andrews ML, Feng C, Hall WJ, Medina A, Zhang L, Wang Z.

Circulation. 2002 Feb 19;105(7):794-9.

4.

A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.

Zhang Y, Zhou N, Jiang W, Peng J, Wan H, Huang C, Xie Z, Huang CL, Grace AA, Ma A.

Eur J Pediatr. 2007 Sep;166(9):927-33. Epub 2006 Dec 14.

PMID:
17171344
5.

Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.

Migdalovich D, Moss AJ, Lopes CM, Costa J, Ouellet G, Barsheshet A, McNitt S, Polonsky S, Robinson JL, Zareba W, Ackerman MJ, Benhorin J, Kaufman ES, Platonov PG, Shimizu W, Towbin JA, Vincent GM, Wilde AA, Goldenberg I.

Heart Rhythm. 2011 Oct;8(10):1537-43. doi: 10.1016/j.hrthm.2011.03.049. Epub 2011 Mar 25.

6.

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.

7.

A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome.

Liu L, Hayashi K, Kaneda T, Ino H, Fujino N, Uchiyama K, Konno T, Tsuda T, Kawashiri MA, Ueda K, Higashikata T, Shuai W, Kupershmidt S, Higashida H, Yamagishi M.

Heart Rhythm. 2013 Jan;10(1):61-7. doi: 10.1016/j.hrthm.2012.09.053. Epub 2012 Sep 23.

PMID:
23010577
8.

Trigger-specific risk factors and response to therapy in long QT syndrome type 2.

Kim JA, Lopes CM, Moss AJ, McNitt S, Barsheshet A, Robinson JL, Zareba W, Ackerman MJ, Kaufman ES, Towbin JA, Vincent M, Goldenberg I.

Heart Rhythm. 2010 Dec;7(12):1797-805. doi: 10.1016/j.hrthm.2010.09.011. Epub 2010 Sep 17.

9.

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
10.

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.

11.

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

Paulussen AD, Raes A, Jongbloed RJ, Gilissen RA, Wilde AA, Snyders DJ, Smeets HJ, Aerssens J.

Cardiovasc Res. 2005 Aug 15;67(3):467-75.

12.

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
13.

Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.

Yamaguchi M, Shimizu M, Ino H, Terai H, Hayashi K, Kaneda T, Mabuchi H, Sumita R, Oshima T, Hoshi N, Higashida H.

Clin Sci (Lond). 2005 Feb;108(2):143-50.

PMID:
15500450
14.

Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.

Goldenberg I, Horr S, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Platonov PG, Priori SG, Qi M, Schwartz PJ, Shimizu W, Towbin JA, Vincent GM, Wilde AA, Zhang L.

J Am Coll Cardiol. 2011 Jan 4;57(1):51-9. doi: 10.1016/j.jacc.2010.07.038.

15.

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.

16.

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.

17.

A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family.

Sun Y, Zhang P, Li X, Zhang H, Li J, Liu G, Guo J.

Scand Cardiovasc J. 2009 Jun;43(3):181-6. doi: 10.1080/14017430802582610.

PMID:
19034806
18.

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W, Moss AJ, Sheu G, Kaufman ES, Priori S, Vincent GM, Towbin JA, Benhorin J, Schwartz PJ, Napolitano C, Hall WJ, Keating MT, Qi M, Robinson J, Andrews ML; International LQTS Registry, University of Rochester, Rochester, New York.

J Cardiovasc Electrophysiol. 2003 Nov;14(11):1149-53.

PMID:
14678125
19.

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.

20.

Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S).

Sato A, Chinushi M, Suzuki H, Numano F, Hanyu T, Iijima K, Watanabe H, Furushima H.

Intern Med. 2012;51(14):1857-60. Epub 2012 Jul 15.

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