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 *

252 related articles for article (PubMed ID: 31913406)

  • 1. Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
    Tester DJ; Bombei HM; Fitzgerald KK; Giudicessi JR; Pitel BA; Thorland EC; Russell BG; Hamrick SK; Kim CSJ; Haglund-Turnquist CM; Johnsrude CL; Atkins DL; Ochoa Nunez LA; Law I; Temple J; Ackerman MJ
    JAMA Cardiol; 2020 Mar; 5(3):13-18. PubMed ID: 31913406
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterization of the calcium release channel deficiency syndrome.
    Tester DJ; Kim CSJ; Hamrick SK; Ye D; O'Hare BJ; Bombei HM; Fitzgerald KK; Haglund-Turnquist CM; Atkins DL; Nunez LAO; Law I; Temple J; Ackerman MJ
    JCI Insight; 2020 Aug; 5(15):. PubMed ID: 32663189
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
    Anderson JH; Tester DJ; Will ML; Ackerman MJ
    Circ Cardiovasc Genet; 2016 Jun; 9(3):259-65. PubMed ID: 27114410
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
    Gray B; Bagnall RD; Lam L; Ingles J; Turner C; Haan E; Davis A; Yang PC; Clancy CE; Sy RW; Semsarian C
    Heart Rhythm; 2016 Aug; 13(8):1652-60. PubMed ID: 27157848
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 79(11):1380-4. PubMed ID: 15544015
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 12(1):298. PubMed ID: 30296944
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 167A(9):2197-200. PubMed ID: 26018045
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.
    Bosch C; Campuzano O; Sarquella-Brugada G; Cesar S; Perez-Serra A; Coll M; Mademont I; Mates J; Del Olmo B; Iglesias A; Brugada J; Petersen V; Brugada R
    Forensic Sci Int; 2017 Jan; 270():173-177. PubMed ID: 27988446
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.
    Wangüemert F; Bosch Calero C; Pérez C; Campuzano O; Beltran-Alvarez P; Scornik FS; Iglesias A; Berne P; Allegue C; Ruiz Hernandez PM; Brugada J; Pérez GJ; Brugada R
    Heart Rhythm; 2015 Jul; 12(7):1636-43. PubMed ID: 25814417
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
    Tester DJ; Kopplin LJ; Will ML; Ackerman MJ
    Heart Rhythm; 2005 Oct; 2(10):1099-105. PubMed ID: 16188589
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis.
    Shauer A; Shor O; Wei J; Elitzur Y; Kucherenko N; Wang R; Chen SRW; Einav Y; Luria D
    J Am Heart Assoc; 2021 Mar; 10(6):e017128. PubMed ID: 33686871
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 24(3):e12623. PubMed ID: 30615235
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sudden unexpected cardiac death and postmortem identification of a novel RYR2 gene mutation.
    Mahlke N; Dittmann S; Schulze-Bahr E; Ritz-Timme S; Hartung B
    Int J Legal Med; 2019 Nov; 133(6):1835-1838. PubMed ID: 31289932
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
    Nyegaard M; Overgaard MT; Søndergaard MT; Vranas M; Behr ER; Hildebrandt LL; Lund J; Hedley PL; Camm AJ; Wettrell G; Fosdal I; Christiansen M; Børglum AD
    Am J Hum Genet; 2012 Oct; 91(4):703-12. PubMed ID: 23040497
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.
    Roston TM; Wei J; Guo W; Li Y; Zhong X; Wang R; Estillore JP; Peltenburg PJ; Noguer FRI; Till J; Eckhardt LL; Orland KM; Hamilton R; LaPage MJ; Krahn AD; Tadros R; Vinocur JM; Kallas D; Franciosi S; Roberts JD; Wilde AAM; Jensen HK; Sanatani S; Chen SRW
    JAMA Cardiol; 2022 Jan; 7(1):84-92. PubMed ID: 34730774
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pathogenesis of unexplained drowning: new insights from a molecular autopsy.
    Tester DJ; Kopplin LJ; Creighton W; Burke AP; Ackerman MJ
    Mayo Clin Proc; 2005 May; 80(5):596-600. PubMed ID: 15887426
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.
    Paech C; Gebauer RA; Karstedt J; Marschall C; Bollmann A; Husser D
    Pediatr Cardiol; 2014 Dec; 35(8):1437-41. PubMed ID: 24950728
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.
    Fernlund E; Andersson O; Ellegård R; Årstrand HK; Green H; Olsson H; Gunnarsson C
    Forensic Sci Int Genet; 2019 Nov; 43():102111. PubMed ID: 31563034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphatics.
    Nishio H; Iwata M; Suzuki K
    Circ J; 2006 Nov; 70(11):1402-6. PubMed ID: 17062961
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.