Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 128

1.

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Ware JS, John S, Roberts AM, Buchan R, Gong S, Peters NS, Robinson DO, Lucassen A, Behr ER, Cook SA.

J Cardiovasc Transl Res. 2013 Feb;6(1):94-103. doi: 10.1007/s12265-012-9401-8. Epub 2012 Sep 7.

PMID:
22956155
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers.

Li X, Buckton AJ, Wilkinson SL, John S, Walsh R, Novotny T, Valaskova I, Gupta M, Game L, Barton PJ, Cook SA, Ware JS.

PLoS One. 2013 Jul 4;8(7):e67744. doi: 10.1371/journal.pone.0067744. Print 2013.

PMID:
23861798
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias.

Bush WS, Crawford DC, Alexander C, George AL Jr, Roden DM, Ritchie MD.

Pharmacogenomics. 2009 Jun;10(6):1043-53. doi: 10.2217/pgs.09.67.

PMID:
19530973
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[DNA-based diagnostics of long QT syndrome].

Berge KE, Haugaa KH, Anfinsen OG, Früh A, Hallerud M, Jonsrud C, Øyen N, Gjesdal K, Amlie JP, Leren TP.

Tidsskr Nor Laegeforen. 2005 Oct 20;125(20):2783-6. Norwegian.

PMID:
16244680
[PubMed - indexed for MEDLINE]
Free Article
5.

Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions.

Syrris P, Murray A, Carter ND, McKenna WM, Jeffery S.

J Med Genet. 2001 Oct;38(10):705-10. No abstract available.

PMID:
11594341
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M.

PLoS One. 2013;8(1):e53083. doi: 10.1371/journal.pone.0053083. Epub 2013 Jan 11.

PMID:
23326386
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing.

Bai R, Napolitano C, Bloise R, Monteforte N, Priori SG.

Circ Arrhythm Electrophysiol. 2009 Feb;2(1):6-15. doi: 10.1161/CIRCEP.108.782888. Epub 2009 Feb 10.

PMID:
19808439
[PubMed - indexed for MEDLINE]
Free Article
8.

Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ.

Mayo Clin Proc. 2012 Jun;87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017.

PMID:
22677073
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia.

Son MK, Ki CS, Park SJ, Huh J, Kim JS, On YK.

J Korean Med Sci. 2013 Jul;28(7):1021-6. doi: 10.3346/jkms.2013.28.7.1021. Epub 2013 Jul 3.

PMID:
23853484
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
19841300
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Common variants at ten loci influence QT interval duration in the QTGEN Study.

Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG, Stricker BH.

Nat Genet. 2009 Apr;41(4):399-406. doi: 10.1038/ng.364. Epub 2009 Mar 22.

PMID:
19305408
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, Mañé B, Llort G, Agúndez JA, Blanca M, Carballo M.

J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.

PMID:
22426013
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K.

Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22.

PMID:
23525850
[PubMed - indexed for MEDLINE]
16.

Molecular diagnostics of families with long-QT syndrome.

Moric-Janiszewska E, Głowacka M.

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

PMID:
22461049
[PubMed - indexed for MEDLINE]
Free Article
17.

Long QT syndrome mutation detection by SNaPshot technique.

Edelmann J, Schumann S, Nastainczyk M, Husser-Bollmann D, Lessig R.

Int J Legal Med. 2012 Nov;126(6):969-73. doi: 10.1007/s00414-011-0598-x. Epub 2011 Jul 18.

PMID:
21769575
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
17597962
[PubMed - indexed for MEDLINE]
Free Article
19.

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.

PMID:
21956039
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk