143 related articles for article (PubMed ID: 29132927)
1. Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death.
Lin Y; He S; Liao Z; Feng R; Liu R; Peng Y; Yu N; Qi H; Chen J; Huang Z; Lei H; Liu Y; Rao F; Deng C; Xue Y; Zhang G; Zhang B; Yao H; Wu S
J Electrocardiol; 2018; 51(2):309-315. PubMed ID: 29132927
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.
Bauce B; Rampazzo A; Basso C; Bagattin A; Daliento L; Tiso N; Turrini P; Thiene G; Danieli GA; Nava A
J Am Coll Cardiol; 2002 Jul; 40(2):341-9. PubMed ID: 12106942
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Recurrent syncope related to catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2-R2401H mutation].
Liu X; Li JX; Hu JZ; Shen Y; Wan R; Xiong QM; Zhou QQ; Xie JY; Jin JJ; Yan X; Yu JH; Hong K
Zhonghua Xin Xue Guan Bing Za Zhi; 2017 Jan; 45(1):39-43. PubMed ID: 28100344
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
Priori SG; Napolitano C; Memmi M; Colombi B; Drago F; Gasparini M; DeSimone L; Coltorti F; Bloise R; Keegan R; Cruz Filho FE; Vignati G; Benatar A; DeLogu A
Circulation; 2002 Jul; 106(1):69-74. PubMed ID: 12093772
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene.
Nof E; Belhassen B; Arad M; Bhuiyan ZA; Antzelevitch C; Rosso R; Fogelman R; Luria D; El-Ani D; Mannens MM; Viskin S; Eldar M; Wilde AA; Glikson M
Heart Rhythm; 2011 Oct; 8(10):1546-52. PubMed ID: 21699856
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.
Modena M; Castiglione V; Aretini P; Mazzanti CM; Chiti E; Giannoni A; Emdin M; Di Paolo M
Mol Genet Genomic Med; 2020 Apr; 8(4):e1182. PubMed ID: 32101375
[TBL] [Abstract][Full Text] [Related]
13. Sudden death after inappropriate shocks of implantable cardioverter defibrillator in a catecholaminergic polymorphic ventricular tachycardia case with a novel RyR2 mutation.
Itoh H; Murayama T; Kurebayashi N; Ohno S; Kobayashi T; Fujii Y; Watanabe M; Ogawa H; Anzai T; Horie M
J Electrocardiol; 2021; 69():111-118. PubMed ID: 34656916
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia.
Jiang D; Jones PP; Davis DR; Gow R; Green MS; Birnie DH; Chen SR; Gollob MH
Channels (Austin); 2010; 4(4):302-10. PubMed ID: 20676041
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
Huang L; Liu C; Tang S; Su T; Cheng J
Forensic Sci Int; 2014 Feb; 235():14-8. PubMed ID: 24447446
[TBL] [Abstract][Full Text] [Related]
18. Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia.
Domingo D; Neco P; Fernández-Pons E; Zissimopoulos S; Molina P; Olagüe J; Suárez-Mier MP; Lai FA; Gómez AM; Zorio E
Rev Esp Cardiol (Engl Ed); 2015 May; 68(5):398-407. PubMed ID: 25440180
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
