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Items: 1 to 20 of 114

1.

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. Epub 2012 Sep 4.

2.

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ.

Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22.

PMID:
25904541
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.
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.

6.

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
7.

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.

8.

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
9.

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.

10.

Molecular diagnostics of families with long-QT syndrome.

Moric-Janiszewska E, Głowacka M.

Cardiol J. 2012;19(2):159-67.

11.

Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study.

Atalar F, Acuner TT, Cine N, Oncu F, Yesilbursa D, Ozbek U, Turkcan S.

Behav Brain Funct. 2010 May 28;6:27. doi: 10.1186/1744-9081-6-27.

12.

[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
13.

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.

14.

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
15.

Identification of Kv11.1 isoform switch as a novel pathogenic mechanism of long-QT syndrome.

Gong Q, Stump MR, Deng V, Zhang L, Zhou Z.

Circ Cardiovasc Genet. 2014 Aug;7(4):482-90. doi: 10.1161/CIRCGENETICS.114.000586. Epub 2014 Jul 15.

16.

Strain Echocardiography and LQTS Subtypes: Mechanical Alterations in an Electrical Disorder.

Jahangir A, Jain R.

JACC Cardiovasc Imaging. 2015 May;8(5):511-3. doi: 10.1016/j.jcmg.2015.03.001. No abstract available.

17.

[Relationship between congenital long QT syndrome and Brugada syndrome gene mutation].

Du R, Ren FX, Yang JG, Yuan GH, Zhang SY, Kang CL, Li W, Gui L, Li J.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 Jun;27(3):289-94. Chinese.

PMID:
16038262
18.

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.

19.

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Liu C, Zhao Q, Su T, Tang S, Lv G, Liu H, Quan L, Cheng J.

Forensic Sci Int. 2013 Sep 10;231(1-3):82-7. doi: 10.1016/j.forsciint.2013.04.020. Epub 2013 May 15.

PMID:
23890619
20.

Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome.

Aziz PF, Wieand TS, Ganley J, Henderson J, Patel AR, Iyer VR, Vogel RL, McBride M, Vetter VL, Shah MJ.

Circ Arrhythm Electrophysiol. 2011 Dec;4(6):867-73. doi: 10.1161/CIRCEP.111.963330. Epub 2011 Sep 28.

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