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Items: 1 to 20 of 129

1.

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzàlez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.

Clin Genet. 2006 Sep;70(3):214-27.

PMID:
16922724
2.

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.

PMID:
15840476
3.

Cardiac ion channel gene mutations in Greek long QT syndrome patients.

Kotta CM, Anastasakis A, Gatzoulis K, Papagiannis J, Geleris P, Stefanadis C.

J Appl Genet. 2010;51(4):515-8. doi: 10.1007/BF03208882.

PMID:
21063070
4.

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.

Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M.

Hum Mutat. 2009 Apr;30(4):557-63. doi: 10.1002/humu.20834.

PMID:
19306396
5.

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H.

Hum Mutat. 2002 Nov;20(5):382-91.

PMID:
12402336
6.

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL, Boström IM, Winbo A, Cederquist K, Jonasson J, Jonsson BA, Diamant UB, Jensen SM, Rydberg A, Norberg A.

BMC Cardiovasc Disord. 2012 Oct 25;12:95. doi: 10.1186/1471-2261-12-95.

7.

Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing.

Sharma D, Glatter KA, Timofeyev V, Tuteja D, Zhang Z, Rodriguez J, Tester DJ, Low R, Scheinman MM, Ackerman MJ, Chiamvimonvat N.

J Mol Cell Cardiol. 2004 Jul;37(1):79-89.

PMID:
15242738
8.
9.

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Lai LP, Su YN, Hsieh FJ, Chiang FT, Juang JM, Liu YB, Ho YL, Chen WJ, Yeh SJ, Wang CC, Ko YL, Wu TJ, Ueng KC, Lei MH, Tsao HM, Chen SA, Lin TK, Wu MH, Lo HM, Huang SK, Lin JL.

J Hum Genet. 2005;50(9):490-6. Epub 2005 Sep 10. Erratum in: J Hum Genet. 2006;51(3):267. Hsieh, Fon-Jou [added].

PMID:
16155735
10.

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
11.

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H, Swan H, Laitinen P, Piippo K, Paavonen K, Viitasalo M, Toivonen L, Kontula K.

Ann Med. 2004;36 Suppl 1:53-63.

PMID:
15176425
12.

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
13.

Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1.

Kubota T, Shimizu W, Kamakura S, Horie M.

J Cardiovasc Electrophysiol. 2000 Sep;11(9):1048-54.

PMID:
11021476
14.

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

Nishio Y, Makiyama T, Itoh H, Sakaguchi T, Ohno S, Gong YZ, Yamamoto S, Ozawa T, Ding WG, Toyoda F, Kawamura M, Akao M, Matsuura H, Kimura T, Kita T, Horie M.

J Am Coll Cardiol. 2009 Aug 25;54(9):812-9. doi: 10.1016/j.jacc.2009.06.005.

15.

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.

16.

Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome.

Raudenská M, Bittnerová A, Novotný T, Floriánová A, Chroust K, Gaillyová R, Semrád B, Kadlecová J, Sisáková M, Toman O, Spinar J.

Physiol Res. 2008;57(6):857-62. Epub 2007 Nov 30.

17.

Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.

Kubota T, Horie M, Takano M, Yoshida H, Takenaka K, Watanabe E, Tsuchiya T, Otani H, Sasayama S.

J Cardiovasc Electrophysiol. 2001 Nov;12(11):1223-9.

PMID:
11761407
18.

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.

Circulation. 2000 Sep 5;102(10):1178-85.

19.

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.

Wattanasirichaigoon D, Vesely MR, Duggal P, Levine JC, Blume ED, Wolff GS, Edwards SB, Beggs AH.

Am J Med Genet. 1999 Oct 29;86(5):470-6.

PMID:
10508990
20.

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.

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