HuGE Literature Finder
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| 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 |
| The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2. Frontiers in physiology 2022 1 12 755642. van den Brink Lettine, Brandão Karina O, Yiangou Loukia, Blanch-Asensio Albert, Mol Mervyn P H, Mummery Christine L, Verkerk Arie O, Davis Richard |
| 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 |
| 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 |
| Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use. Scientific reports 2018 May 8 (1): 8443. Nagasawa Sayaka, Saitoh Hisako, Kasahara Shiori, Chiba Fumiko, Torimitsu Suguru, Abe Hiroko, Yajima Daisuke, Iwase Hirota |
| 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 |
| KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. Journal of medical genetics 2017 Mar . Kapplinger Jamie D, Erickson Anders, Asuri Sirisha, Tester David J, McIntosh Sarah, Kerr Charles R, Morrison Julie, Tang Anthony, Sanatani Shubhayan, Arbour Laura, Ackerman Michael |
| Genetic biomarkers for the risk of seizures in long QT syndrome. Neurology 2016 Oct 87 (16): 1660-1668. Auerbach David S, McNitt Scott, Gross Robert A, Zareba Wojciech, Dirksen Robert T, Moss Arthur |
| Latent pathogenicity of the G38S polymorphism of KCNE1 K channel modulator. Heart and vessels 2016 Jun . Yamaguchi Yoshiaki, Mizumaki Koichi, Hata Yukiko, Sakamoto Tamotsu, Nakatani Yosuke, Kataoka Naoya, Ichida Fukiko, Inoue Hiroshi, Nishida Nao |
| 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 |
| Pediatric Cohort With Long QT Syndrome - KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms. Circulation journal : official journal of the Japanese Circulation Society 2016 Jan . Ozawa Junichi, Ohno Seiko, Hisamatsu Takashi, Itoh Hideki, Makiyama Takeru, Suzuki Hiroshi, Saitoh Akihiko, Horie Mino |
| 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- |
| [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 |
| Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Annals of neurology 2015 Dec . Bagnall Richard D, Crompton Douglas E, Petrovski Slavé, Lam Lien, Cutmore Carina, Garry Sarah I, Sadleir Lynette G, Dibbens Leanne M, Cairns Anita, Kivity Sara, Afawi Zaid, Regan Brigid M, Duflou Johan, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christoph |
| The genetics underlying acquired long QT syndrome: impact for genetic screening. European heart journal 2015 Dec . Itoh Hideki, Crotti Lia, Aiba Takeshi, Spazzolini Carla, Denjoy Isabelle, Fressart Véronique, Hayashi Kenshi, Nakajima Tadashi, Ohno Seiko, Makiyama Takeru, Wu Jie, Hasegawa Kanae, Mastantuono Elisa, Dagradi Federica, Pedrazzini Matteo, Yamagishi Masakazu, Berthet Myriam, Murakami Yoshitaka, Shimizu Wataru, Guicheney Pascale, Schwartz Peter J, Horie Mino |
| 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 |
| High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Scientific reports 2015 5 10009. Steffensen Annette Buur, Refaat Marwan M, David Jens-Peter, Mujezinovic Amer, Calloe Kirstine, Wojciak Julianne, Nussbaum Robert L, Scheinman Melvin M, Schmitt Nico |
| 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 |
| Molecular analysis of potassium ion channel genes in sudden death cases among patients administered psychotropic drug therapy: are polymorphisms in LQT genes a potential risk factor? Journal of human genetics 2014 Feb 59 (2): 95-9. Kamei Sayako, Sato Noriko, Harayama Yuta, Nunotani Miyako, Takatsu Kanae, Shiozaki Tetsuya, Hayashi Tokutaro, Asamura Hide |
| Genetic modifier of the QTc interval associated with early-onset atrial fibrillation. The Canadian journal of cardiology 2013 Oct 29 (10): 1234-40. Andreasen Laura, Nielsen Jonas B, Christophersen Ingrid E, Holst Anders Gaarsdal, Sajadieh Ahmad, Tveit Arnljot, Haunsø Stig, Svendsen Jesper H, Schmitt Nicole, Olesen Morten |
| 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 |
| Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. Circulation. Cardiovascular genetics 2013 Aug 6 (4): 354-61. Duchatelet Sabine, Crotti Lia, Peat Rachel A, Denjoy Isabelle, Itoh Hideki, Berthet Myriam, Ohno Seiko, Fressart Véronique, Monti Maria Cristina, Crocamo Cristina, Pedrazzini Matteo, Dagradi Federica, Vicentini Alessandro, Klug Didier, Brink Paul A, Goosen Althea, Swan Heikki, Toivonen Lauri, Lahtinen Annukka M, Kontula Kimmo, Shimizu Wataru, Horie Minoru, George Alfred L, Trégouët David-Alexandre, Guicheney Pascale, Schwartz Peter |
| 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 |
| 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:Jan 27, 2023
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