BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 24217263)

  • 1. Long QT syndrome in South Africa: the results of comprehensive genetic screening.
    Hedley PL; Durrheim GA; Hendricks F; Goosen A; Jespersgaard C; Støvring B; Pham TT; Christiansen M; Brink PA; Corfield VA
    Cardiovasc J Afr; 2013 Jul; 24(6):231-7. PubMed ID: 24217263
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 12():95. PubMed ID: 23098067
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 15():31. PubMed ID: 24606995
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
    Paulussen AD; Gilissen RA; Armstrong M; Doevendans PA; Verhasselt P; Smeets HJ; Schulze-Bahr E; Haverkamp W; Breithardt G; Cohen N; Aerssens J
    J Mol Med (Berl); 2004 Mar; 82(3):182-8. PubMed ID: 14760488
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
    Al-Hassnan ZN; Al-Fayyadh M; Al-Ghamdi B; Shafquat A; Mallawi Y; Al-Hadeq F; Tulbah S; Shinwari ZMA; Almesned A; Alakhfash A; Al Fadly F; Hersi AS; Alhayani A; Al-Hashem A; Arafah D; Dzimiri N; Meyer B; Rababh M; Al-Manea W
    Heart Rhythm; 2017 Aug; 14(8):1191-1199. PubMed ID: 28438721
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
    Fujii Y; Matsumoto Y; Hayashi K; Ding WG; Tomita Y; Fukumoto D; Wada Y; Ichikawa M; Sonoda K; Ozawa J; Makiyama T; Ohno S; Yamagishi M; Matsuura H; Horie M; Itoh H
    J Cardiol; 2017 Jul; 70(1):74-79. PubMed ID: 27816319
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 15176425
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 106(8):1124-8. PubMed ID: 20920651
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 12442276
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 15840476
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 17905336
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 26118593
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects.
    Sherman J; Tester DJ; Ackerman MJ
    Heart Rhythm; 2005 Nov; 2(11):1218-23. PubMed ID: 16253912
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 16818214
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 120(18):1752-60. PubMed ID: 19841300
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
    Lieve KV; Williams L; Daly A; Richard G; Bale S; Macaya D; Chung WK
    Genet Test Mol Biomarkers; 2013 Jul; 17(7):553-61. PubMed ID: 23631430
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
    de Villiers CP; van der Merwe L; Crotti L; Goosen A; George AL; Schwartz PJ; Brink PA; Moolman-Smook JC; Corfield VA
    Circ Cardiovasc Genet; 2014 Oct; 7(5):599-606. PubMed ID: 25087618
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 19716085
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 21308345
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 9():87. PubMed ID: 18808722
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.