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Items: 1 to 20 of 68

1.

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

Refsgaard L, Holst AG, Sadjadieh G, Haunsø S, Nielsen JB, Olesen MS.

Eur J Hum Genet. 2012 Aug;20(8):905-8. doi: 10.1038/ejhg.2012.23. Epub 2012 Feb 29.

2.

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.

Andreasen C, Refsgaard L, Nielsen JB, Sajadieh A, Winkel BG, Tfelt-Hansen J, Haunsø S, Holst AG, Svendsen JH, Olesen MS.

Can J Cardiol. 2013 Sep;29(9):1104-9. doi: 10.1016/j.cjca.2012.12.002. Epub 2013 Mar 7.

PMID:
23465283
3.

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS.

Eur J Hum Genet. 2013 Sep;21(9):918-28. doi: 10.1038/ejhg.2012.283. Epub 2013 Jan 9.

4.

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

Risgaard B, Jabbari R, Refsgaard L, Holst AG, Haunsø S, Sadjadieh A, Winkel BG, Olesen MS, Tfelt-Hansen J.

Clin Genet. 2013 Nov;84(5):489-95. doi: 10.1111/cge.12126. Epub 2013 Mar 11.

PMID:
23414114
5.

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J, Jabbari R, Nielsen MW, Holst AG, Nielsen JB, Haunsø S, Tfelt-Hansen J, Svendsen JH, Olesen MS.

Circ Cardiovasc Genet. 2013 Oct;6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. Epub 2013 Sep 11.

6.

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ, Jabbari J, Cheng XS, Jabbari R, Nielsen JB, Risgaard B, Chen X, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS, Tfelt-Hansen J.

BMC Genet. 2014 Jun 18;15:74. doi: 10.1186/1471-2156-15-74.

7.

Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.

Burgos M, Arenas A, Cabrera R.

Mol Diagn Ther. 2016 Aug;20(4):353-62. doi: 10.1007/s40291-016-0207-2.

PMID:
27251404
8.

High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.

Olesen MS, Yuan L, Liang B, Holst AG, Nielsen N, Nielsen JB, Hedley PL, Christiansen M, Olesen SP, Haunsø S, Schmitt N, Jespersen T, Svendsen JH.

Circ Cardiovasc Genet. 2012 Aug 1;5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. Epub 2012 Jun 8.

9.

Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses.

Medlock MM, Tester DJ, Will ML, Bos JM, Ackerman MJ.

Heart Rhythm. 2012 Dec;9(12):1977-82. doi: 10.1016/j.hrthm.2012.08.010. Epub 2012 Aug 8.

PMID:
22885918
10.

Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ.

Circ Cardiovasc Genet. 2013 Jun;6(3):279-89.

11.

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K.

J Am Coll Cardiol. 2001 Feb;37(2):562-8.

12.

Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ.

Circ Cardiovasc Genet. 2016 Apr;9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11.

13.

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

Ghouse J, Have CT, Weeke P, Bille Nielsen J, Ahlberg G, Balslev-Harder M, Appel EV, Skaaby T, Olesen SP, Grarup N, Linneberg A, Pedersen O, Haunsø S, Hastrup Svendsen J, Hansen T, Kanters JK, Salling Olesen M.

Eur Heart J. 2015 Oct 1;36(37):2523-9. doi: 10.1093/eurheartj/ehv297. Epub 2015 Jul 9.

PMID:
26159999
14.

LQTS gene LOVD database.

Zhang T, Moss A, Cong P, Pan M, Chang B, Zheng L, Fang Q, Zareba W, Robinson J, Lin C, Li Z, Wei J, Zeng Q; Long QT International Registry Investigators; HVP-China Investigators, Qi M.

Hum Mutat. 2010 Nov;31(11):E1801-10. doi: 10.1002/humu.21341.

15.

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
16.

Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.

Kobori A, Sarai N, Shimizu W, Nakamura Y, Murakami Y, Makiyama T, Ohno S, Takenaka K, Ninomiya T, Fujiwara Y, Matsuoka S, Takano M, Noma A, Kita T, Horie M.

J Cardiovasc Electrophysiol. 2004 Feb;15(2):190-9.

PMID:
15028050
17.

Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation.

Makita N, Horie M, Nakamura T, Ai T, Sasaki K, Yokoi H, Sakurai M, Sakuma I, Otani H, Sawa H, Kitabatake A.

Circulation. 2002 Sep 3;106(10):1269-74.

18.

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
19.

High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

Takahashi K, Shimizu W, Miyake A, Nabeshima T, Nakayashiro M, Ganaha H.

Circ J. 2014;78(8):1974-9. Epub 2014 May 28.

20.

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

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