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470 related items for PubMed ID: 24394973

  • 1. Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.
    Ohno S, Omura M, Kawamura M, Kimura H, Itoh H, Makiyama T, Ushinohama H, Makita N, Horie M.
    Europace; 2014 Nov; 16(11):1646-54. PubMed ID: 24394973
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  • 3. Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
    van der Werf C, Nederend I, Hofman N, van Geloven N, Ebink C, Frohn-Mulder IM, Alings AM, Bosker HA, Bracke FA, van den Heuvel F, Waalewijn RA, Bikker H, van Tintelen JP, Bhuiyan ZA, van den Berg MP, Wilde AA.
    Circ Arrhythm Electrophysiol; 2012 Aug 01; 5(4):748-56. PubMed ID: 22787013
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  • 4. Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.
    Campbell MJ, Czosek RJ, Hinton RB, Miller EM.
    Am J Med Genet A; 2015 Sep 01; 167A(9):2197-200. PubMed ID: 26018045
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  • 6. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.
    Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, Postma AV, van Langen I, Mannens MM, Wilde AA.
    Circulation; 2007 Oct 02; 116(14):1569-76. PubMed ID: 17875969
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  • 10. Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.
    Leong IU, Sucich J, Prosser DO, Skinner JR, Crawford JR, Higgins C, Love DR.
    Ups J Med Sci; 2015 Oct 02; 120(3):190-7. PubMed ID: 25835811
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  • 12. Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia.
    Dharmawan T, Nakajima T, Ohno S, Iizuka T, Tamura S, Kaneko Y, Horie M, Kurabayashi M.
    Ann Noninvasive Electrocardiol; 2019 May 02; 24(3):e12623. PubMed ID: 30615235
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  • 14. A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia.
    Kohli U, Aziz Z, Beaser AD, Nayak HM.
    Pacing Clin Electrophysiol; 2019 Aug 02; 42(8):1146-1154. PubMed ID: 30912151
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  • 15. Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.
    Sy RW, Gollob MH, Klein GJ, Yee R, Skanes AC, Gula LJ, Leong-Sit P, Gow RM, Green MS, Birnie DH, Krahn AD.
    Heart Rhythm; 2011 Jun 02; 8(6):864-71. PubMed ID: 21315846
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  • 16. Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.
    Xu B, Yang J, Liu F, Lv T, Li K, Yuan Y, Li S, Liu Y, Zhang P.
    Cardiol Young; 2024 May 02; 34(5):1010-1017. PubMed ID: 38017672
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  • 17. Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.
    Broendberg AK, Nielsen JC, Bjerre J, Pedersen LN, Kristensen J, Henriksen FL, Bundgaard H, Jensen HK.
    Heart; 2017 Jun 02; 103(12):901-909. PubMed ID: 28237968
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  • 18. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
    Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ.
    J Am Coll Cardiol; 2009 Nov 24; 54(22):2065-74. PubMed ID: 19926015
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  • 19. Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.
    Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ.
    Mayo Clin Proc; 2004 Nov 24; 79(11):1380-4. PubMed ID: 15544015
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  • 20. Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report.
    Seidlmayer LK, Riediger F, Pagonas N, Nordbeck P, Ritter O, Sasko B.
    J Med Case Rep; 2018 Oct 09; 12(1):298. PubMed ID: 30296944
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