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 |
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation 2020 Jul 142 (4): 324-338. Lahrouchi Najim, Tadros Rafik, Crotti Lia, Mizusawa Yuka, Postema Pieter G, Beekman Leander, Walsh Roddy, Hasegawa Kanae, Barc Julien, Ernsting Marko, Turkowski Kari L, Mazzanti Andrea, Beckmann Britt M, Shimamoto Keiko, Diamant Ulla-Britt, Wijeyeratne Yanushi D, Kucho Yu, Robyns Tomas, Ishikawa Taisuke, Arbelo Elena, Christiansen Michael, Winbo Annika, Jabbari Reza, Lubitz Steven A, Steinfurt Johannes, Rudic Boris, Loeys Bart, Shoemaker M Ben, Weeke Peter E, Pfeiffer Ryan, Davies Brianna, Andorin Antoine, Hofman Nynke, Dagradi Federica, Pedrazzini Matteo, Tester David J, Bos J Martijn, Sarquella-Brugada Georgia, Campuzano Óscar, Platonov Pyotr G, Stallmeyer Birgit, Zumhagen Sven, Nannenberg Eline A, Veldink Jan H, van den Berg Leonard H, Al-Chalabi Ammar, Shaw Christopher E, Shaw Pamela J, Morrison Karen E, Andersen Peter M, Müller-Nurasyid Martina, Cusi Daniele, Barlassina Cristina, Galan Pilar, Lathrop Mark, Munter Markus, Werge Thomas, Ribasés Marta, Aung Tin, Khor Chiea C, Ozaki Mineo, Lichtner Peter, Meitinger Thomas, van Tintelen J Peter, Hoedemaekers Yvonne, Denjoy Isabelle, Leenhardt Antoine, Napolitano Carlo, Shimizu Wataru, Schott Jean-Jacques, Gourraud Jean-Baptiste, Makiyama Takeru, Ohno Seiko, Itoh Hideki, Krahn Andrew D, Antzelevitch Charles, Roden Dan M, Saenen Johan, Borggrefe Martin, Odening Katja E, Ellinor Patrick T, Tfelt-Hansen Jacob, Skinner Jonathan R, van den Berg Maarten P, Olesen Morten Salling, Brugada Josep, Brugada Ramón, Makita Naomasa, Breckpot Jeroen, Yoshinaga Masao, Behr Elijah R, Rydberg Annika, Aiba Takeshi, Kääb Stefan, Priori Silvia G, Guicheney Pascale, Tan Hanno L, Newton-Cheh Christopher, Ackerman Michael J, Schwartz Peter J, Schulze-Bahr Eric, Probst Vincent, Horie Minoru, Wilde Arthur A, Tanck Michael W T, Bezzina Connie |
| 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 |
| Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis. BMC medical genetics 2017 07 18 (1): 74. Winbo Annika, Stattin Eva-Lena, Westin Ida Maria, Norberg Anna, Persson Johan, Jensen Steen M, Rydberg Anni |
| Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1? Circulation. Cardiovascular genetics 2016 Aug 9 (4): 330-9. Crotti Lia, Lahtinen Annukka M, Spazzolini Carla, Mastantuono Elisa, Monti Maria Cristina, Morassutto Caterina, Parati Gianfranco, Heradien Marshall, Goosen Althea, Lichtner Peter, Meitinger Thomas, Brink Paul A, Kontula Kimmo, Swan Heikki, Schwartz Peter |
| 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 |
| KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. American journal of medical genetics. Part A 2016 Apr . Vyas Bijal, Puri Ratna D, Namboodiri Narayanan, Nair Mohan, Sharma Deepak, Movva Sireesha, Saxena Renu, Bohora Shomu, Aggarwal Neeraj, Vora Amit, Kumar Jatinder, Singh Tarandeep, Verma Ishwar |
| 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 |
| 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 |
| 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 |
| A Common Mutation of Long QT Syndrome Type 1 in Japan. Circulation journal : official journal of the Japanese Circulation Society 2015 Aug 79 (9): 2026-30. Itoh Hideki, Dochi Kenichi, Shimizu Wataru, Denjoy Isabelle, Ohno Seiko, Aiba Takeshi, Kimura Hiromi, Kato Koichi, Fukuyama Megumi, Hasagawa Kanae, Schulze-Bahr Eric, Guicheney Pascale, Horie Mino |
| Third trimester fetal heart rate predicts phenotype and mutation burden in the type 1 long QT syndrome. Circulation. Arrhythmia and electrophysiology 2015 Aug 8 (4): 806-14. Winbo Annika, Fosdal Inger, Lindh Maria, Diamant Ulla-Britt, Persson Johan, Wettrell Göran, Rydberg Anni |
| 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 |
| Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1. Journal of the American College of Cardiology 2015 Feb 65 (4): 367-74. Porta Alberto, Girardengo Giulia, Bari Vlasta, George Alfred L, Brink Paul A, Goosen Althea, Crotti Lia, Schwartz Peter |
| 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 |
| AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. Circulation. Cardiovascular genetics 2014 Oct 7 (5): 599-606. de Villiers Carin P, van der Merwe Lize, Crotti Lia, Goosen Althea, George Alfred L, Schwartz Peter J, Brink Paul A, Moolman-Smook Johanna C, Corfield Valerie |
| 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 |
| Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome. Heart rhythm : the official journal of the Heart Rhythm Society 2014 Jan 11 (1): 76-82. Earle Nikki, Yeo Han Dug, Pilbrow Anna, Crawford Jackie, Smith Warren, Shelling Andrew N, Cameron Vicky, Love Donald R, Skinner Jonathan |
| 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:Jun 22, 2022
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