Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 37 Records) |
| Query Trace: Syncope and SCN5A[original query] |
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| Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome. Frontiers of medicine in China 2007 Jul 1 (3): 312-5. Du Rong, Tian Li, Yuan Guohui, Li Jin, Ren Faxin, Gui Le, Li Wei, Zhang Shouyan, Kang Cailian, Yang Jung |
| Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. The American journal of cardiology 2010 Oct 106 (8): 1124-8. Tester David J, Benton Amber J, Train Laura, Deal Barbara, Baudhuin Linnea M, Ackerman Michael |
| A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome. Clinical genetics 2013 Jun 83 (6): 530-8. García-Molina E, Lacunza J, Ruiz-Espejo F, Sabater M, García-Alberola A, Gimeno J R, Cañizares F, García A, Martínez P, Valdés M, Tovar |
| Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5. Circulation journal : official journal of the Japanese Circulation Society 2012 Dec . Ishikawa T, Takahashi N, Ohno S, Sakurada H, Nakamura K, On YK, Park JE, Makiyama T, Horie M, Arimura T, Makita N, Kimura A |
| 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 |
| Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome. The American journal of cardiology 2013 Nov 112 (9): 1384-9. Maury Philippe, Rollin Anne, Sacher Frédéric, Gourraud Jean-Baptiste, Raczka Franck, Pasquié Jean-Luc, Duparc Alexandre, Mondoly Pierre, Cardin Christelle, Delay Marc, Derval Nicolas, Chatel Stéphanie, Bongard Vanina, Sadron Marie, Denis Arnaud, Davy Jean-Marc, Hocini Mélèze, Jaïs Pierre, Jesel Laurence, Haïssaguerre Michel, Probst Vince |
| Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic testing and molecular biomarkers 2013 Jul 17 (7): 553-61. Lieve Krystien V, Williams Leah, Daly Amy, Richard Gabriele, Bale Sherri, Macaya Daniela, Chung Wendy |
| L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (7): 1799-806. Fukuyama Megumi, Ohno Seiko, Wang Qi, Kimura Hiromi, Makiyama Takeru, Itoh Hideki, Ito Makoto, Horie Mino |
| Contribution of Cardiac Sodium Channel ß-Subunit Variants to Brugada Syndrome. Circulation journal : official journal of the Japanese Circulation Society 2015 Jul . Peeters Uschi, Scornik Fabiana, Riuró Helena, Pérez Guillermo, Komurcu-Bayrak Evrim, Van Malderen Sophie, Pappaert Gudrun, Tarradas Anna, Pagans Sara, Daneels Dorien, Breckpot Karine, Brugada Pedro, Bonduelle Maryse, Brugada Ramon, Van Dooren Son |
| Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients. International heart journal 2015 56 (4): 450-3. Chang Ya-Sian, Yang Yi-Wen, Lin Yen-Nien, Lin Kuo-Hung, Chang Kuan-Cheng, Chang Jan-Gow |
| Novel SCN10A variants associated with Brugada syndrome. 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 2015 Apr . Fukuyama Megumi, Ohno Seiko, Makiyama Takeru, Horie Mino |
| Surveillance after cardiac arrest in patients with Brugada syndrome without an implantable defibrillator: An alarm effect of the previous syncope. International journal of cardiology 2016 May 218 69-74. Calvo David, Flórez Juan Pablo, Valverde Irene, Rubín José, Pérez Diego, Vasserot Mar Gonzalez, Rodríguez-Reguero Julián, Avanzas Pablo, de la Hera Jesús María, Gómez Juan, Coto Eliecer, Martínez-Camblor Pablo, Morís Cés |
| Influence of Pregnancy in Patients With Congenital Long QT Syndrome. Cardiology in review 2016 Mar . Garg Lohit, Garg Jalaj, Krishnamoorthy Parasuram, Ahnert Amy, Shah Neeraj, Dusaj Raman S, Bozorgnia Bab |
| 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 mutations in young patients admitted to an emergency department for syncope during sport practice. Medicina clinica 2018 4 151 (7): 270-274. Gómez Alcaraz Jorge, Bustamante José, Corral Ervigio, Casado Florez Maria Isabel, Vivas David, Cañadas-Godoy Victoria, González Del Castillo Juan, González Armengol Juan Jorge, López-Farré Antonio, Martín Sánchez Francisco Javi |
| 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 |
| Copy number variations of SCN5A in Brugada syndrome. Heart rhythm 2018 3 15 (8): 1179-1188. Sonoda Keiko, Ohno Seiko, Ozawa Junichi, Hayano Mamoru, Hattori Tetsuhisa, Kobori Atsushi, Yahata Mitsuhiko, Aburadani Isao, Watanabe Seiichi, Matsumoto Yuichi, Makiyama Takeru, Horie Mino |
| SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta-analysis. Journal of arrhythmia 2018 10 34 (5): 473-477. Raharjo Sunu Budhi, Maulana Rido, Maghfirah Irma, Alzahra Fatimah, Putrinarita Agnes Dinar, Hanafy Dicky A, Yuniadi Yo |
| Correlations of SCN5A gene polymorphisms with onset of atrial fibrillation. European review for medical and pharmacological sciences 2019 Aug 23 (16): 7089-7097. Wang X-J, Ding P, Wang F-Z, Liu |
| Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Frontiers in cell and developmental biology 2019 11 7 261. El-Battrawy Ibrahim, Müller Jonas, Zhao Zhihan, Cyganek Lukas, Zhong Rujia, Zhang Feng, Kleinsorge Mandy, Lan Huan, Li Xin, Xu Qiang, Huang Mengying, Liao Zhenxing, Moscu-Gregor Alexander, Albers Sebastian, Dinkel Hendrik, Lang Siegfried, Diecke Sebastian, Zimmermann Wolfram-Hubertus, Utikal Jochen, Wieland Thomas, Borggrefe Martin, Zhou Xiaobo, Akin Ibrah |
| Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry. QJM : monthly journal of the Association of Physicians 2019 1 112 (5): 343-350. Chen C-Y J, Juang J-M J, Lin L-Y, Liu Y-B, Ho L-T, Yu C-C, Huang H-C, Lin T-T, Liao M-C, Chen J-J, Hwang J-J, Chen W-J, Yeh S-F S, Yang D-H, Chiang F-T, Lin J-L, Lai L-P, Horie M, |
| Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes. Stem cells international 2020 9 2020 8842398. Barajas-Martinez Hector, Smith Maya, Hu Dan, Goodrow Robert J, Puleo Colleen, Hasdemir Can, Antzelevitch Charles, Pfeiffer Ryan, Treat Jacqueline A, Cordeiro Jonathan |
| 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 |
| Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry. Circulation. Genomic and precision medicine 2020 Jun . Jimmy Juang Jyh-Ming, Liu Yen-Bin, Julius Chen Ching-Yu, Yu Qi-You, Chattopadhyay Amrita, Lin Lian-Yu, Chen Wen-Jone, Yu Chih-Chien, Huang Hui-Chun, Ho Li-Ting, Lai Ling-Ping, Hwang Juey-Jen, Lin Ting-Tse, Liao Min-Tsun, Chen Jien-Jiun, Sherri Yeh Shih-Fan, Chuang Jing-Yuan, Yang Dun-Hui, Lin Jiunn-Lee, Lu Tzu-Pin, Chuang Eric Y, Ackerman Michael |
| Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong. Frontiers in physiology 2020 11 574590. Tse Gary, Lee Sharen, Liu Tong, Yuen Ho Chuen, Wong Ian Chi Kei, Mak Chloe, Mok Ngai Shing, Wong Wing T |
| A 59-Year-Old Woman with Familial Brugada Syndrome and the c.664C>T Variant of the Sodium Voltage-Gated Channel Alpha Subunit 5 (SCN5A) Gene, Accompanied by Congenital Absence of the Right Coronary Artery, Patent Foramen Ovale, and Ischemic Stroke. The American journal of case reports 2021 8 22 e931535. Katsaras Dimitrios, Sanjeev Kumar Bangalore Thimmappa, Patel Billal, Chalil Shajil, Abozguia Khal |
| Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. International journal of molecular sciences 2021 7 22 (13): . Treat Jacqueline A, Pfeiffer Ryan, Barajas-Martinez Hector, Goodrow Robert J, Bot Corina, Haedo Rodolfo J, Knox Ronald, Cordeiro Jonathan |
| KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort. Life (Basel, Switzerland) 2022 4 12 (4): . Lorca Rebeca, Junco-Vicente Alejandro, Pérez-Pérez Alicia, Pascual Isaac, Persia-Paulino Yvan Rafael, González-Urbistondo Francisco, Cuesta-Llavona Elías, Fernández-Barrio Bárbara C, Morís César, Rubín José Manuel, Coto Eliecer, Gómez Juan, Reguero José Julián Rodrígu |
| Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart rhythm 2022 2 19 (6): 998-1007. Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael |
| Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Circulation. Genomic and precision medicine 2023 4 16 (2): e003726. Wei Zhou, Dan Ye, David J Tester, Sahej Bains, John R Giudicessi, Carla M Haglund-Turnquist, Kate M Orland, Craig T January, Lee L Eckhardt, Kathleen R Maginot, Michael J Ackerm |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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