Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Syncope and RYR2[original query] |
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| 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. Journal of the American College of Cardiology 2009 Nov 54 (22): 2065-74. Medeiros-Domingo Argelia, Bhuiyan Zahurul A, Tester David J, Hofman Nynke, Bikker Hennie, van Tintelen J Peter, Mannens Marcel M A M, Wilde Arthur A M, Ackerman Michael |
| Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC cardiovascular disorders 2012 12 (1): 95. Stattin Eva-Lena, Boström Ida Maria, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg An |
| 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 |
| 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 |
| An NGS-based genotyping in LQTS; minor genes are no longer minor. Journal of human genetics 2020 Jul . Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Mino |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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