HuGE Literature Finder
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| 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 |
| Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population. Cardiology 2019 Nov 1-8. Wang Feng, Liu Yang, Liao Hongtao, Xue Yumei, Zhan Xianzhang, Fang Xianhong, Liang Yuanhong, Wei Wei, Rao Fang, Zhang Qianhuan, Deng Hai, Lin Yubi, Liu Fangzhou, Lin Weidong, Zhang Bin, Wu Shul |
| Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing. Annals of human genetics 2019 Nov . Li Xin, Liu Nian, Bai Ro |
| SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European heart journal 2018 Jul . Baruteau Alban-Elouen, Kyndt Florence, Behr Elijah R, Vink Arja S, Lachaud Matthias, Joong Anna, Schott Jean-Jacques, Horie Minoru, Denjoy Isabelle, Crotti Lia, Shimizu Wataru, Bos Johan M, Stephenson Elizabeth A, Wong Leonie, Abrams Dominic J, Davis Andrew M, Winbo Annika, Dubin Anne M, Sanatani Shubhayan, Liberman Leonardo, Kaski Juan Pablo, Rudic Boris, Kwok Sit Yee, Rieubland Claudine, Tfelt-Hansen Jacob, Van Hare George F, Guyomarc'h-Delasalle Béatrice, Blom Nico A, Wijeyeratne Yanushi D, Gourraud Jean-Baptiste, Le Marec Hervé, Ozawa Junichi, Fressart Véronique, Lupoglazoff Jean-Marc, Dagradi Federica, Spazzolini Carla, Aiba Takeshi, Tester David J, Zahavich Laura A, Beauséjour-Ladouceur Virginie, Jadhav Mangesh, Skinner Jonathan R, Franciosi Sonia, Krahn Andrew D, Abdelsayed Mena, Ruben Peter C, Yung Tak-Cheung, Ackerman Michael J, Wilde Arthur A, Schwartz Peter J, Probst Vince |
| Postmortem Analysis of 4 Mutation Hotspots of KCNQ1, KCNH2, and SCN5A Genes in Sudden Unexplained Death in Southwest of China. The American journal of forensic medicine and pathology 2018 May . Jia Peng-Lin, Wang Yue-Bing, Fu Hua, Huang Wen-Li, Zhong Shu-Rong, Ma Lin, Li Yu-Hua, Dong Yi, Sun Zhong-Chun, Yang Lin, Qu Peng-Fei, Zhao Su, Qu Yong-Qiang, Xi Yan-Mei, Wang Shang-Wen, Tang Xue, Lei Pu-Pi |
| Re-evaluating pathogenicity of variants associated with the long QT syndrome. Journal of cardiovascular electrophysiology 2017 Oct . Kaltman Jonathan R, Evans Frank, Fu Yi-Pi |
| 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 |
| Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine 2016 Feb . Neubauer Jacqueline, Haas Cordula, Bartsch Christine, Domingo-Medeiros Argelia, Berger Wolfga |
| Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology 2016 133 (2): 73-8. Gao Yuanfeng, Liu Wenling, Li Cuilan, Qiu Xiaoliang, Qin Xuguang, Guo Baojing, Liu Xueqin, Li Jianfeng, Yuan Yue, Li Xiaomei, Liang Lu, Li Lei, Hong Kui, Pu Jielin, Liu Jinqiu, Wang Qing, Zhang Li, Hu Da- |
| Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect. Journal of the American Heart Association 2016 5 (7): . Veltmann Christian, Barajas-Martinez Hector, Wolpert Christian, Borggrefe Martin, Schimpf Rainer, Pfeiffer Ryan, Cáceres Gabriel, Burashnikov Elena, Antzelevitch Charles, Hu D |
| [High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis]. Zhonghua xin xue guan bing za zhi 2015 Dec 43 (12): 1046-50. Zhou Hui, Li Zhang, Ali Raza Ghani, Zhu Wengen, Zhou Qiongqiong, Shen Yang, Xie Jinyan, Cao Qing, Wan Rong, Hu Jinzhu, Hong K |
| Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. European journal of human genetics : EJHG 2015 Dec . Itoh Hideki, Berthet Myriam, Fressart Véronique, Denjoy Isabelle, Maugenre Svetlana, Klug Didier, Mizusawa Yuka, Makiyama Takeru, Hofman Nynke, Stallmeyer Birgit, Zumhagen Sven, Shimizu Wataru, Wilde Arthur A M, Schulze-Bahr Eric, Horie Minoru, Tezenas du Montcel Sophie, Guicheney Pasca |
| Mutational analysis of SCN5A gene in long QT syndrome. Meta gene 2015 Dec 6 26-35. Qureshi Sameera Fatima, Ali Altaf, John Princy, Jadhav Amol P, Venkateshwari Ananthapur, Rao Hygriv, Jayakrishnan M P, Narasimhan Calambur, Shenthar Jayaprakash, Thangaraj Kumarasamy, Nallari Pratib |
| Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circulation. Cardiovascular genetics 2015 Aug 8 (4): 582-95. Kapplinger Jamie D, Giudicessi John R, Ye Dan, Tester David J, Callis Thomas E, Valdivia Carmen R, Makielski Jonathan C, Wilde Arthur A, Ackerman Michael |
| Multiplex ligation-dependent probe amplification copy number variant analysis in patients with acquired long QT 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 17 (4): 635-41. Williams Victoria S, Cresswell Carl J, Ruspi Gerhard, Yang Tao, Atak Thomas C, McLoughlin Matthew, Ingram Christiana D, Ramirez Andrea H, Roden Dan, Armstrong Mart |
| Genetic analysis, in silico prediction, and family segregation in long QT syndrome. European journal of human genetics : EJHG 2015 Jan 23 (1): 79-85. Riuró Helena, Campuzano Oscar, Berne Paola, Arbelo Elena, Iglesias Anna, Pérez-Serra Alexandra, Coll-Vidal Mònica, Partemi Sara, Mademont-Soler Irene, Picó Ferran, Allegue Catarina, Oliva Antonio, Gerstenfeld Edward, Sarquella-Brugada Georgia, Castro-Urda Víctor, Fernández-Lozano Ignacio, Mont Lluís, Brugada Josep, Scornik Fabiana S, Brugada Ram |
| 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 |
| Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome. Molecular diagnosis & therapy 2014 Oct 18 (5): 533-9. Millat Gilles, Chanavat Valérie, Rousson Robe |
| SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction. Molecular medicine reports 2014 Oct 10 (4): 2039-44. Boehringer Tim, Bugert Peter, Borggrefe Martin, Elmas El |
| High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. Circulation journal : official journal of the Japanese Circulation Society 2014 78 (8): 1974-9. Takahashi Kazuhiro, Shimizu Wataru, Miyake Akira, Nabeshima Taisuke, Nakayashiro Mami, Ganaha Hitos |
| Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome. Circulation. Arrhythmia and electrophysiology 2013 Aug . Cuneo BF, Etheridge SP, Horigome H, Sallee D, Moon-Grady A, Weng HY, Ackerman MJ, Benson DW |
| 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 |
| Long QT syndrome-associated mutations in intrauterine fetal death. JAMA 2013 Apr 309 (14): 1473-82. Crotti Lia, Tester David J, White Wendy M, Bartos Daniel C, Insolia Roberto, Besana Alessandra, Kunic Jennifer D, Will Melissa L, Velasco Ellyn J, Bair Jennifer J, Ghidoni Alice, Cetin Irene, Van Dyke Daniel L, Wick Myra J, Brost Brian, Delisle Brian P, Facchinetti Fabio, George Alfred L, Schwartz Peter J, Ackerman Michael |
| Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. PloS one 2013 8 (7): e69614. Trolle Christian, Mortensen Kristian H, Pedersen Lisbeth N, Berglund Agnethe, Jensen Henrik K, Andersen Niels H, Gravholt Claus |
| Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses. Heart rhythm : the official journal of the Heart Rhythm Society 2012 Dec 9 (12): 1977-82. Medlock Morgan M, Tester David J, Will Melissa L, Bos J Martijn, Ackerman Michael |
| The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. Journal of cardiovascular electrophysiology 2012 Oct 23 (10): 1092-8. Winkel Bo Gregers, Larsen Maiken Kudahl, Berge Knut Erik, Leren Trond Paul, Nissen Peter Henrik, Olesen Morten Salling, Hollegaard Mads Vilhelm, Jespersen Thomas, Yuan Lei, Nielsen Nikolaj, Haunsø Stig, Svendsen Jesper Hastrup, Wang Yinman, Kristensen Ingrid Bayer, Jensen Henrik Kjaerulf, Tfelt-Hansen Jacob, Banner Jyt |
| High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circulation. Cardiovascular genetics 2012 Aug 5 (4): 450-9. Olesen Morten S, Yuan Lei, Liang Bo, Holst Anders G, Nielsen Nikolaj, Nielsen Jonas B, Hedley Paula L, Christiansen Michael, Olesen Søren-Peter, Haunsø Stig, Schmitt Nicole, Jespersen Thomas, Svendsen Jesper |
| 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 |
| 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 |
| Sports Participation in Genotype Positive Children With Long QT Syndrome. JACC. Clinical electrophysiology 0 1 (1-2): 62-70. Aziz Peter F, Sweeten Tammy, Vogel Ramon L, Bonney William J, Henderson Jacqueline, Patel Akash R, Shah Maully |
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- Page last updated:Aug 10, 2022
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