Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Tachycardia and RYR2[original query] |
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Common genetic variants in selected Ca²? signaling genes and the risk of appropriate ICD interventions in patients with heart failure. Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing 2013 Dec 38 (3): 169-77. Francia Pietro, Adduci Carmen, Ricotta Agnese, Stanzione Rosita, Sensini Isabella, Uccellini Arianna, Frattari Alessandra, Balla Cristina, Cotugno Maria, Cappato Riccardo, Rubattu Speranza, Volpe Massi |
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circulation. Cardiovascular genetics 2013 Oct 6 (5): 481-9. Jabbari Javad, Jabbari Reza, Nielsen Morten W, Holst Anders G, Nielsen Jonas B, Haunsø Stig, Tfelt-Hansen Jacob, Svendsen Jesper H, Olesen Morten |
Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population. Annals of medicine 2013 Jun 45 (4): 328-35. Lahtinen Annukka M, Havulinna Aki S, Noseworthy Peter A, Jula Antti, Karhunen Pekka J, Perola Markus, Newton-Cheh Christopher, Salomaa Veikko, Kontula Kim |
Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart rhythm : the official journal of the Heart Rhythm Society 2014 Nov 11 (11): 1999-2009. Roux-Buisson Nathalie, Gandjbakhch Estelle, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Mansencal Nicolas, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar, Hidden-Lucet Françoise, Trapani Jonathan, Fouret Pierre, Frank Robert, Fressart Veronique, Fauré Julien, Lunardi Joel, Charron Philip |
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. PloS one 2014 9 (6): e101059. Akilzhanova Ainur, Guelly Christian, Nuralinov Omirbek, Nurkina Zhannur, Nazhat Dinara, Smagulov Shalkhar, Tursunbekov Azat, Alzhanova Anar, Rashbayeva Gulzhaina, Abdrakhmanov Ayan, Dosmagambet Sholpan, Trajanoski Slave, Zhumadilov Zhaxybay, Sharman Almaz, Bekbosynova Mahabb |
Neuronal Na+ channel blockade suppresses arrhythmogenic diastolic Ca2+ release. Cardiovascular research 2015 Apr 106 (1): 143-52. Radwa?ski Przemys?aw B, Brunello Lucia, Veeraraghavan Rengasayee, Ho Hsiang-Ting, Lou Qing, Makara Michael A, Belevych Andriy E, Anghelescu Mircea, Priori Silvia G, Volpe Pompeo, Hund Thomas J, Janssen Paul M L, Mohler Peter J, Bridge John H B, Poelzing Steven, Györke Sánd |
Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population. Forensic science international 2014 Feb 235 14-8. Huang Lei, Liu Chao, Tang Shuangbo, Su Terry, Cheng Jiandi |
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PloS one 2015 10 (6): e0131517. Ohno Seiko, Hasegawa Kanae, Horie Mino |
Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models. PloS one 2015 10 (5): e0125366. Penttinen Kirsi, Swan Heikki, Vanninen Sari, Paavola Jere, Lahtinen Annukka M, Kontula Kimmo, Aalto-Setälä Katrii |
RyR2 Common Gene Variant G1886S and the Risk of Ventricular Arrhythmias in ICD Patients with Heart Failure. Journal of cardiovascular electrophysiology 2015 Jun 26 (6): 656-61. Francia Pietro, Adduci Carmen, Semprini Lorenzo, Stanzione Rosita, Serdoz Andrea, Caprinozzi Massimo, Santini Daria, Cotugno Maria, Palano Francesca, Musumeci Maria Beatrice, Rubattu Speranza, Volpe Massi |
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment. Circulation journal : official journal of the Japanese Circulation Society 2016 Jul . Kawata Hiro, Ohno Seiko, Aiba Takeshi, Sakaguchi Heima, Miyazaki Aya, Sumitomo Naokata, Kamakura Tsukasa, Nakajima Ikutaro, Inoue Yuko Y, Miyamoto Koji, Okamura Hideo, Noda Takashi, Kusano Kengo, Kamakura Shiro, Miyamoto Yoshihiro, Shiraishi Isao, Horie Minoru, Shimizu Wata |
Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RyR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. Revista espanola de cardiologia (English ed.) 2017 8 71 (3): 185-191. Wangüemert Pérez Fernando, Hernández Afonso Julio Salvador, Groba Marco María Del Val, Caballero Dorta Eduardo, Álvarez Acosta Luis, Campuzano Larrea Oscar, Pérez Guillermo, Brugada Terradellas Josep, Brugada Terradellas Ram |
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. Circulation. Arrhythmia and electrophysiology 2017 Apr 10 (4): . Landstrom Andrew P, Dailey-Schwartz Andrew L, Rosenfeld Jill A, Yang Yaping, McLean Margaret J, Miyake Christina Y, Valdes Santiago O, Fan Yuxin, Allen Hugh D, Penny Daniel J, Kim Jeffrey |
Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death. Journal of electrocardiology 2017 11 51 (2): 309-315. Lin Yubi, He Siqi, Liao Zili, Feng Ruiling, Liu Ruilin, Peng Yongzheng, Yu Nan, Qi Hang, Chen Jia, Huang Zifeng, Lei Heping, Liu Yang, Rao Fang, Deng Chunyu, Xue Yumei, Zhang Guolin, Zhang Bin, Yao Hua, Wu Shul |
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. Annals of laboratory medicine 2017 10 38 (1): 54-58. Seo Soo Hyun, Kim So Yeon, Cho Sung Im, Park Hyunwoong, Lee Seungjun, Choi Jong Moon, Kim Man Jin, Lee Jee Soo, Ahn Kyung Jin, Song Mi Kyoung, Bae Eun Jung, Park Sung Sup, Seong Moon W |
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? International journal of cardiology 2017 10 250 139-145. Leinonen Jaakko T, Crotti Lia, Djupsjöbacka Aurora, Castelletti Silvia, Junna Nella, Ghidoni Alice, Tuiskula Annukka M, Spazzolini Carla, Dagradi Federica, Viitasalo Matti, Kontula Kimmo, Kotta Maria-Christina, Widén Elisabeth, Swan Heikki, Schwartz Peter |
Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1?- Modified Schwartz Score. Circulation journal : official journal of the Japanese Circulation Society 2018 6 82 (9): 2269-2276. Ozawa Junichi, Ohno Seiko, Fujii Yusuke, Makiyama Takeru, Suzuki Hiroshi, Saitoh Akihiko, Horie Mino |
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. Hong Kong medical journal = Xianggang yi xue za zhi 2018 3 24 (4): 340-349. Mak C M, Chen S Pl, Mok N S, Siu W K, Lee H Hc, Ching C K, Tsui P T, Fong N C, Yuen Y P, Poon W T, Law C Y, Chong Y K, Chan Y W, Yung T C, Fan K Yy, Lam C |
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia. Indian pacing and electrophysiology journal 2018 2 18 (3): 91-94. Rangaraju Advithi, Krishnan Shuba, Aparna G, Sankaran Satish, Mannan Ashraf U, Rao B Hygr |
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2018 1 20 (10): 1675-1682. Inoue Yuko Y, Aiba Takeshi, Kawata Hiro, Sakaguchi Tomoko, Mitsuma Wataru, Morita Hiroshi, Noda Takashi, Takaki Hiroshi, Toyohara Keiko, Kanaya Yoshiaki, Itoi Toshiyuki, Mitsuhashi Takeshi, Sumitomo Naokata, Cho Yongkeun, Yasuda Satoshi, Kamakura Shiro, Kusano Kengo, Miyamoto Yoshihiro, Horie Minoru, Shimizu Wata |
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. Circulation. Genomic and precision medicine 2019 5 12 (5): e002510. Giudicessi John R, Lieve Krystien V V, Rohatgi Ram K, Koca Faruk, Tester David J, van der Werf Christian, Martijn Bos J, Wilde Arthur A M, Ackerman Michael |
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies. Circulation. Genomic and precision medicine 2020 12 14 (1): e003126. Theis Jeanne L, Hu Jessie J, Sundsbak Rhianna S, Evans Jared M, Bamlet William R, Qureshi M Yasir, O'Leary Patrick W, Olson Timothy |
Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation. PloS one 2020 12 15 (12): e0243649. Koponen Mikael, Marjamaa Annukka, Tuiskula Annukka M, Viitasalo Matti, Nallinmaa-Luoto Terhi, Leinonen Jaakko T, Widen Elisabeth, Toivonen Lauri, Kontula Kimmo, Swan Heik |
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia. Frontiers in neuroscience 2021 4 15 629610. Ma Mei-Gang, Liu Xiao-Rong, Wu Yuan, Wang Jie, Li Bing-Mei, Shi Yi-Wu, Su Tao, Li Bin, Liu De-Tian, Yi Yong-Hong, Liao Wei-Pi |
An International Multicenter Cohort Study on ?-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation 2021 12 145 (5): 333-344. Peltenburg Puck J, Kallas Dania, Bos Johan M, Lieve Krystien V V, Franciosi Sonia, Roston Thomas M, Denjoy Isabelle, Sorensen Katrina B, Ohno Seiko, Roses-Noguer Ferran, Aiba Takeshi, Maltret Alice, LaPage Martin J, Atallah Joseph, Giudicessi John R, Clur Sally-Ann B, Blom Nico A, Tanck Michael, Extramiana Fabrice, Kato Koichi, Barc Julien, Borggrefe Martin, Behr Elijah R, Sarquella-Brugada Georgia, Tfelt-Hansen Jacob, Zorio Esther, Swan Heikki, Kammeraad Janneke A E, Krahn Andrew D, Davis Andrew, Sacher Frederic, Schwartz Peter J, Roberts Jason D, Skinner Jonathan R, van den Berg Maarten P, Kannankeril Prince J, Drago Fabrizio, Robyns Tomas, Haugaa Kristina, Tavacova Terezia, Semsarian Christopher, Till Jan, Probst Vincent, Brugada Ramon, Shimizu Wataru, Horie Minoru, Leenhardt Antoine, Ackerman Michael J, Sanatani Shubhayan, van der Werf Christian, Wilde Arthur A |
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance. Circulation. Genomic and precision medicine 2022 Jul 101161CIRCGEN121003603. Fang Chen, Wang Pengxia, Yu Dong, Zhang Xiaoyu, Gou Dongzhi, Liang Lina, Bai Xuemei, Xie Wen, Li Hui, Pu Jielin, Yao Yufeng, Wang Binbin, Ren Xiang, Ke Tie, Tu Xin, Xu Chengqi, Wang Qing |
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With ?-Blockers. JAMA cardiology 2022 3 7 (5): 504-512. Mazzanti Andrea, Kukavica Deni, Trancuccio Alessandro, Memmi Mirella, Bloise Raffaella, Gambelli Patrick, Marino Maira, Ortíz-Genga Martín, Morini Massimo, Monteforte Nicola, Giordano Umberto, Keegan Roberto, Tomasi Luca, Anastasakis Aristides, Davis Andrew M, Shimizu Wataru, Blom Nico A, Santiago Demetrio Julián, Napolitano Carlo, Monserrat Lorenzo, Priori Silvia |
Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort. Journal of the Formosan Medical Association = Taiwan yi zhi 2024 8 . Grace Chia-Yen Hsu, Mei-Hwan Wu, Jing-Yuan Chuang, Shuenn-Nan Chiu, Ming-Tai Lin, Ling-Ping Lai, Shih-Fan Sherri Yeh, Sheng-Fu Liu, Ting-Tse Lin, Fu-Tien Chiang, Jyh-Ming Jimmy Juang, |
Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children. Frontiers in genetics 2024 6 15 1405437. Yefeng Wang, Yufan Yang, Ningan Xu, Yunbin Xiao, Chao Zuo, Zhi Ch |
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics. Biomolecules 2024 11 14 (11): . Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, Daniele Perrino, Silvia Genovese, Valentina Lanari, Daniela Righi, Federica Calì, Massimo Stefano Silvetti, Elena Falcone, Alessia Bauleo, Fabrizio Drago, Antonio Novelli, Anwar Bab |
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