These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 38367891)

  • 21. 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]  

  • 22. KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
    Kapplinger JD; Erickson A; Asuri S; Tester DJ; McIntosh S; Kerr CR; Morrison J; Tang A; Sanatani S; Arbour L; Ackerman MJ
    J Med Genet; 2017 Jun; 54(6):390-398. PubMed ID: 28264985
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome
    Rinné S; Oertli A; Nagel C; Tomsits P; Jenewein T; Kääb S; Kauferstein S; Loewe A; Beckmann BM; Decher N
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36674868
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.
    Synková I; Bébarová M; Andršová I; Chmelikova L; Švecová O; Hošek J; Pásek M; Vít P; Valášková I; Gaillyová R; Navrátil R; Novotný T
    Sci Rep; 2021 Feb; 11(1):3573. PubMed ID: 33574382
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
    Zafari Z; Dalili M; Zeinali S; Saber S; Fazeli Far AF; Akbari MT
    J Electrocardiol; 2017; 50(6):912-918. PubMed ID: 29033053
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
    Koponen M; Havulinna AS; Marjamaa A; Tuiskula AM; Salomaa V; Laitinen-Forsblom PJ; Piippo K; Toivonen L; Kontula K; Viitasalo M; Swan H
    BMC Med Genet; 2018 Apr; 19(1):56. PubMed ID: 29622001
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Early repolarization is associated with symptoms in patients with type 1 and type 2 long QT syndrome.
    Laksman ZW; Gula LJ; Saklani P; Cassagneau R; Steinberg C; Conacher S; Yee R; Skanes A; Leong-Sit P; Manlucu J; Klein GJ; Krahn AD
    Heart Rhythm; 2014 Sep; 11(9):1632-8. PubMed ID: 24861447
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation.
    Winbo A; Diamant UB; Rydberg A; Persson J; Jensen SM; Stattin EL
    Heart Rhythm; 2011 Apr; 8(4):541-7. PubMed ID: 21129503
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutation-Specific Differences in Kv7.1 (
    Kekenes-Huskey PM; Burgess DE; Sun B; Bartos DC; Rozmus ER; Anderson CL; January CT; Eckhardt LL; Delisle BP
    Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806392
    [TBL] [Abstract][Full Text] [Related]  

  • 31. "QT clock" to improve detection of QT prolongation in long QT syndrome patients.
    Page A; Aktas MK; Soyata T; Zareba W; Couderc JP
    Heart Rhythm; 2016 Jan; 13(1):190-8. PubMed ID: 26334569
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
    Nishimura M; Ueda M; Ebata R; Utsuno E; Ishii T; Matsushita K; Ohara O; Shimojo N; Kobayashi Y; Nomura F
    BMC Med Genet; 2017 Jun; 18(1):66. PubMed ID: 28595573
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
    Yamashita F; Horie M; Kubota T; Yoshida H; Yumoto Y; Kobori A; Ninomiya T; Kono Y; Haruna T; Tsuji K; Washizuka T; Takano M; Otani H; Sasayama S; Aizawa Y
    J Mol Cell Cardiol; 2001 Feb; 33(2):197-207. PubMed ID: 11162126
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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; 309(14):1473-82. PubMed ID: 23571586
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
    Crotti L; Lahtinen AM; Spazzolini C; Mastantuono E; Monti MC; Morassutto C; Parati G; Heradien M; Goosen A; Lichtner P; Meitinger T; Brink PA; Kontula K; Swan H; Schwartz PJ
    Circ Cardiovasc Genet; 2016 Aug; 9(4):330-9. PubMed ID: 27531917
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A trafficking-deficient KCNQ1 mutation, T587M, causes a severe phenotype of long QT syndrome by interfering with intracellular hERG transport.
    Wu J; Sakaguchi T; Takenaka K; Toyoda F; Tsuji K; Matsuura H; Horie M
    J Cardiol; 2019 May; 73(5):343-350. PubMed ID: 30591322
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction.
    Biliczki P; Girmatsion Z; Brandes RP; Harenkamp S; Pitard B; Charpentier F; Hébert TE; Hohnloser SH; Baró I; Nattel S; Ehrlich JR
    Heart Rhythm; 2009 Dec; 6(12):1792-801. PubMed ID: 19959132
    [TBL] [Abstract][Full Text] [Related]  

  • 39. KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
    Vyas B; Puri RD; Namboodiri N; Nair M; Sharma D; Movva S; Saxena R; Bohora S; Aggarwal N; Vora A; Kumar J; Singh T; Verma IC
    Am J Med Genet A; 2016 Jun; 170(6):1510-9. PubMed ID: 27041150
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Functional testing for variant prioritization in a family with long QT syndrome.
    Najari Beidokhti M; Bertalovitz AC; Ji W; McCormack J; Jeffries L; Sempou E; Khokha MK; McDonald TV; Lakhani SA
    Mol Genet Genomics; 2021 Jul; 296(4):823-836. PubMed ID: 33876311
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.