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Items: 1 to 20 of 117

1.

Molecular genetics of long QT syndrome.

Bokil NJ, Baisden JM, Radford DJ, Summers KM.

Mol Genet Metab. 2010 Sep;101(1):1-8. doi: 10.1016/j.ymgme.2010.05.011. Epub 2010 Jun 9. Review.

PMID:
20594883
2.

[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

Liu WL, Hu DY, Li P, Li CL, Qin XG, Li YT, Li L, Li ZM, Dong W, Qi Y, Wang Q.

Zhonghua Nei Ke Za Zhi. 2006 Jun;45(6):463-6. Chinese.

PMID:
16831322
3.

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.

4.

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.

5.

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.

6.

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
7.

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.

8.

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.

Allegue C, Gil R, Blanco-Verea A, Santori M, Rodríguez-Calvo M, Concheiro L, Carracedo A, Brion M.

Int J Legal Med. 2011 Jul;125(4):565-72. doi: 10.1007/s00414-011-0572-7. Epub 2011 Apr 16.

PMID:
21499742
9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.

Andrsova I, Novotny T, Kadlecova J, Bittnerova A, Vit P, Florianova A, Sisakova M, Gaillyova R, Manouskova L, Spinar J.

J Electrocardiol. 2012 Nov-Dec;45(6):746-51. doi: 10.1016/j.jelectrocard.2012.05.004. Epub 2012 Jun 22.

PMID:
22727609
15.

Congenital long QT syndrome.

Crotti L, Celano G, Dagradi F, Schwartz PJ.

Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Review.

16.

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.

17.

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
18.

[Molecular genetics of the long QT syndrome: clinical aspects].

Sepp R, Csanády M.

Orv Hetil. 1999 Nov 21;140(47):2633-8. Review. Hungarian.

PMID:
10613047
19.

Genetics of long QT syndrome.

Tester DJ, Ackerman MJ.

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

20.

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

Johnson JN, Hofman N, Haglund CM, Cascino GD, Wilde AA, Ackerman MJ.

Neurology. 2009 Jan 20;72(3):224-31. doi: 10.1212/01.wnl.0000335760.02995.ca. Epub 2008 Nov 26.

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