Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 53 Records) |
Query Trace: Catecholaminergic Polymorphic Ventricular Tachycardia[original query] |
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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 |
Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy. Journal of genetic counseling 2018 8 . Christian S, Somerville M, Huculak C, Atallah |
[Molecular autopsy in sudden cardiac death]. Archivos de cardiologia de Mexico 2018 7 88 (4): 306-312. Bonilla Juan Carlos, Parra-Medina Rafael, Chaves Juan José, Campuzano Oscar, Sarquella-Brugada Georgia, Brugada Ramón, Brugada Jos |
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 |
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing. Polish archives of internal medicine 2018 12 128 (12): 721-730. St?pie?-Wojno Ma?gorzata, Poni?ska Joanna, Rydzanicz Ma?gorzata, Bili?ska Maria, Truszkowska Gra?yna, Baranowski Rafa?, Luty?ska Anna, Biernacka El?bieta K, St?pi?ska Janina, Kowalik Ilona, P?oski Rafa?, Bili?ska Zofia |
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 |
Ventricular Dysrhythmias During Long-Term Follow-Up in Patients With Inherited Cardiac Arrhythmia. The American journal of cardiology 2019 9 124 (9): 1436-1441. Sitorus Gustaf D S, Ragab Ahmed A Y, Houck Charlotte A, Lanters Eva A H, Heida Annejet, van Gastel Virgilla E, Muskens Agnes J Q M, de Groot Natasja M |
Chronotropic incompetence as a risk predictor in children and young adults with catecholaminergic polymorphic ventricular tachycardia. Journal of cardiovascular electrophysiology 2019 6 30 (10): 1923-1929. Franciosi Sonia, Roston Thomas M, Perry Frances K G, Knollmann Bjorn C, Kannankeril Prince J, Sanatani Shubhay |
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 |
A novel variant of the CASQ2 gene in a Chinese family with catecholaminergic polymorphic ventricular tachycardia. Cardiology journal 2019 1 25 (6): 756-758. Gao Lu, Cui Lang, Zheng Lihui, Zhao Zhihui, Li Qirui, Yu Xia, Wang Jiahui, Yuan Y |
Role of cardiac sympathetic denervation in ventricular tachycardia: A meta-analysis. Pacing and clinical electrophysiology : PACE 2020 5 43 (8): 828-837. Murtaza Ghulam, Sharma Sharan P, Akella Krishna, Turagam Mohit K, Rocca Domenico G Della, Lakkireddy Dhanunjaya, Gopinathannair Rake |
Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy. PloS one 2020 4 15 (4): e0231442. Ramos-Maqueda Javier, Bermúdez-Jiménez Francisco, Ruiz Rosa Macías, Ramos Mercedes Cabrera, Lerma Manuel Molina, Millán Pablo Sánchez, López Miguel Álvarez, Sánchez Luis Tercedor, Jiménez-Jáimez Ju |
Heart Rate Recovery After Exercise Is Associated With Arrhythmic Events in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation. Arrhythmia and electrophysiology 2020 2 13 (3): e007471. Lieve Krystien V V, Dusi Veronica, van der Werf Christian, Bos J Martijn, Lane Conor M, Stokke Mathis Korseberg, Roston Thomas M, Djupsjöbacka Aurora, Wada Yuko, Denjoy Isabelle, Bundgaard Henning, Noguer Ferran Roses I, Semsarian Christopher, Robyns Tomas, Hofman Nynke, Tanck Michael W, van den Berg Maarten P, Kammeraad Janneke A E, Krahn Andrew D, Clur Sally-Ann B, Sacher Frederic, Till Jan, Skinner Jonathan R, Tfelt-Hansen Jacob, Probst Vincent, Leenhardt Antoine, Horie Minoru, Swan Heikki, Roberts Jason D, Sanatani Shubhayan, Haugaa Kristina H, Schwartz Peter J, Ackerman Michael J, Wilde Arthur A |
Initially unexplained cardiac arrest in children and adolescents: A national experience from the Canadian Pediatric Heart Rhythm Network. Heart rhythm 2020 2 17 (6): 975-981. Cunningham Taylor, Roston Thomas M, Franciosi Sonia, Liu Michelle Chang, Atallah Joseph, Escudero Carolina A, Udupa Sharmila, Roberts Jason D, Dhillon Santokh, Dallaire Frédéric, Fournier Anne, Fatah Meena, Hamilton Robert, Sanatani Shubhay |
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 |
Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases. Journal of cardiovascular electrophysiology 2020 1 31 (2): 465-473. Butters Alexandra, Isbister Julia C, Medi Caroline, Raju Hariharan, Turner Christian, Sy Raymond W, Semsarian Christopher, Ingles Jod |
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. NPJ genomic medicine 2021 6 6 (1): 51. Lacaze Paul, Sebra Robert, Riaz Moeen, Ingles Jodie, Tiller Jane, Thompson Bryony A, James Paul A, Fatkin Diane, Semsarian Christopher, Reid Christopher M, Tonkin Andrew M, Winship Ingrid, Schadt Eric, McNeil John |
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 |
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response. Journal of personalized medicine 2021 Jun 11 (6): . Blancard Malorie, Touat-Hamici Zahia, Aguilar-Sanchez Yuriana, Yin Liheng, Vaksmann Guy, Roux-Buisson Nathalie, Fressart Véronique, Denjoy Isabelle, Klug Didier, Neyroud Nathalie, Ramos-Franco Josefina, Gomez Ana Maria, Guicheney Pasca |
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA cardiology 2022 8 7 (9): 966-974. Dellefave-Castillo Lisa M, Cirino Allison L, Callis Thomas E, Esplin Edward D, Garcia John, Hatchell Kathryn E, Johnson Britt, Morales Ana, Regalado Ellen, Rojahn Susan, Vatta Matteo, Nussbaum Robert L, McNally Elizabeth |
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 |
Catecholaminergic polymorphic ventricular tachycardia: differences in inheritance and implications for patients, families and future studies. Heart (British Cardiac Society) 2022 3 108 (11): 820-821. Postema Pieter G, van der Werf Christi |
The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children. Journal of arrhythmia 2023 8 39 (4): 607-612. Miry Blich, Hodaya Oron, Wisam Darawsha, Mahmoud Suleiman, Lior Gepstein, Monther Boulos, Avraham Lorber, Asaad Kchou |
Novel trans-2,3-enoyl-CoA reductase-like variant associated with catecholaminergic polymorphic ventricular tachycardia type 3. HeartRhythm case reports 2023 3 9 (3): 171-177. Charafeddine Fatme, Assaf Nada, Ismail Ali, Bulbul Zi |
Flecainide Is Associated With a Lower Incidence of Arrhythmic Events in a Large Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation 2023 10 . Auke T Bergeman, Krystien V V Lieve, Dania Kallas, Johan M Bos, Ferran Roses Y Noguer, Isabelle Denjoy, Esther Zorio, Janneke A E Kammeraad, P J Peltenburg, Katie Tobert, Takeshi Aiba, Joseph Atallah, Fabrizio Drago, Anjan S Batra, Ramon Brugada, Martin Borggrefe, Sally-Ann B Clur, Moniek G P J Cox, Andrew Davis, Santokh Dhillon, Susan P Etheridge, Peter Fischbach, Sonia Franciosi, Kristina Haugaa, Minoru Horie, Christopher Johnsrude, Austin M Kane, Ulrich Krause, Sit-Yee Kwok, Martin J LaPage, Seiko Ohno, Vincent Probst, Jason D Roberts, Tomas Robyns, Frederic Sacher, Christopher Semsarian, Jonathan R Skinner, Heikki Swan, Terezia Tavacova, Svjetlana Tisma-Dupanovic, Jacob Tfelt-Hansen, Sing-Chien Yap, Prince J Kannankeril, Antoine Leenhardt, Janice Till, Shubhayan Sanatani, Michael W T Tanck, Michael J Ackerman, Arthur A M Wilde, Christian van der We |
Assessment of paediatric exertional or peri-exertional syncope: does the story matter? Cardiology in the young 2023 1 1-6. Turan Ozlem, Marshall Taylor, Runciman Martin, Schaffer Michael, von Alvensleben Johannes, Collins Kathryn |
Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report. Seizure 2024 4 117 284-287. Kazutoshi Konomatsu, Yosuke Kakisaka, Kazutaka Jin, Takeshi Aiba, Shin Takahashi, Hironobu Ueda, Takafumi Kubota, Temma Soga, Kazushi Ukishiro, Masashi Aoki, Nobukazu Nakasa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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