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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 |
| 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 |
| Abnormal repolarization dynamics in a patient with KCNE1(G38S) who presented with torsades de pointes. Journal of electrocardiology 2015 Oct . Yamaguchi Yoshiaki, Mizumaki Koichi, Hata Yukiko, Inoue Hiros |
| 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 |
| 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 |
| Slow delayed rectifier potassium current blockade contributes importantly to drug-induced long QT syndrome. Circulation. Arrhythmia and electrophysiology 2013 Aug . Veerman CC, Verkerk AO, Blom MT, Klemens CA, Langendijk PN, van Ginneken AC, Wilders R, Tan HL |
| 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 |
| Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clinic proceedings 2012 Jun 87 (6): 524-39. Tester David J, Medeiros-Domingo Argelia, Will Melissa L, Haglund Carla M, Ackerman Michael |
| A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circulation. Cardiovascular genetics 2012 Feb 5 (1): 91-9. Kääb Stefan, Crawford Dana C, Sinner Moritz F, Behr Elijah R, Kannankeril Prince J, Wilde Arthur A M, Bezzina Connie R, Schulze-Bahr Eric, Guicheney Pascale, Bishopric Nanette H, Myerburg Robert J, Schott Jean-Jacques, Pfeufer Arne, Beckmann Britt-Maria, Martens Eimo, Zhang Taifang, Stallmeyer Birgit, Zumhagen Sven, Denjoy Isabelle, Bardai Abdennasser, Van Gelder Isabelle C, Jamshidi Yalda, Dalageorgou Chrysoula, Marshall Vanessa, Jeffery Steve, Shakir Saad, Camm A John, Steinbeck Gerhard, Perz Siegfried, Lichtner Peter, Meitinger Thomas, Peters Annette, Wichmann H-Erich, Ingram Christiana, Bradford Yuki, Carter Shannon, Norris Kris, Ritchie Marylyn D, George Alfred L, Roden Dan |
| 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 ion channel genes ventricular fibrillation survivors with coronary artery disease. Pacing and clinical electrophysiology : PACE 2011 Jun 34 (6): 742-9. Novotny Tomas, Kadlecova Jitka, Raudenska Martina, Bittnerova Alexandra, Andrsova Irena, Florianova Alena, Vasku Anna, Neugebauer Petr, Kozak Milan, Sepsi Milan, Krivan Lubomir, Gaillyova Renata, Spinar Jindri |
| KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome? BMC medical genetics 2011 12 (1): 11. Lahtinen Annukka M, Marjamaa Annukka, Swan Heikki, Kontula Kim |
| The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study. Journal of negative results in biomedicine 2011 10 (1): 12. Hedley Paula L, Haundrup Ole, Andersen Paal S, Aidt Frederik H, Jensen Morten, Moolman-Smook Johanna C, Bundgaard Henning, Christiansen Micha |
| 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 |
| Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates. The Canadian journal of cardiology 2010 Apr 26 (4): 208-12. Subbiah Rajesh N, Gollob Michael H, Gula Lorne J, Davies Robert W, Leong-Sit Peter, Skanes Allan C, Yee Raymond, Klein George J, Krahn Andrew |
| Cardiac ion channel gene mutations in Greek long QT syndrome patients. Journal of applied genetics 2010 51 (4): 515-8. Kotta C-M, Anastasakis A, Gatzoulis K, Papagiannis J, Geleris P, Stefanadis |
| Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart rhythm : the official journal of the Heart Rhythm Society 2009 Sep 6 (9): 1297-303. Kapplinger Jamie D, Tester David J, Salisbury Benjamin A, Carr Janet L, Harris-Kerr Carole, Pollevick Guido D, Wilde Arthur A M, Ackerman Michael |
| D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. Journal of the American College of Cardiology 2009 Aug 54 (9): 812-9. Nishio Yukiko, Makiyama Takeru, Itoh Hideki, Sakaguchi Tomoko, Ohno Seiko, Gong Yin-Zhi, Yamamoto Satoshi, Ozawa Tomoya, Ding Wei-Guang, Toyoda Futoshi, Kawamura Mihoko, Akao Masaharu, Matsuura Hiroshi, Kimura Takeshi, Kita Toru, Horie Mino |
| Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. Human mutation 2009 Apr 30 (4): 4. Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M |
| Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatric cardiology 2009 Mar . Millat G, Kugener B, Chevalier P, Chahine M, Huang H, Malicier D, Rodriguez-Lafrasse C, Rousson R |
| The association between SCN5A, KCNQ1 and KCNE1 gene polymorphisms and complex ventricular arrhythmias in survivors of myocardial infarction. Kardiologia polska 2008 Aug 66 (8): 845-53; discussion 854-5. Olszak-Wa?kiewicz Marlena, Kubik Leszek, Dziuk Miros?aw, Sid?o Ewa, Kucharczyk Krzysztof, Kaczanowski Rados? |
| Long QT and Brugada syndrome gene mutations in New Zealand. Heart rhythm : the official journal of the Heart Rhythm Society 2007 Oct 4 (10): 1306-14. Chung Seo-Kyung, MacCormick Judith M, McCulley Caroline H, Crawford Jackie, Eddy Carey-Anne, Mitchell Edwin A, Shelling Andrew N, French John K, Skinner Jonathan R, Rees Mark |
| 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 |
| Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition. Heart rhythm : the official journal of the Heart Rhythm Society 2007 Feb 4 (2): 170-4. Chevalier Philippe, Bellocq Chloé, Millat Gilles, Piqueras Eric, Potet Franck, Schott Jean-Jacques, Baró Isabelle, Lemarec Hervé, Barhanin Jacques, Rousson Robert, Rodriguez-Lafrasse Clai |
| Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007 Jan 115 (3): 361-7. Arnestad Marianne, Crotti Lia, Rognum Torleiv O, Insolia Roberto, Pedrazzini Matteo, Ferrandi Chiara, Vege Ashild, Wang Dao W, Rhodes Troy E, George Alfred L, Schwartz Peter |
| Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart rhythm : the official journal of the Heart Rhythm Society 2006 Jul 3 (7): 815-21. Tester David J, Cronk Lisa B, Carr Janet L, Schulz Vincent, Salisbury Benjamin A, Judson Richard S, Ackerman Michael |
| Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. British journal of clinical pharmacology 2006 Mar 61 (3): 301-8. Koo Seok Hwee, Ho Woon Fei, Lee Edmund Jon Deo |
| Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005 Dec 294 (23): 2975-80. Napolitano Carlo, Priori Silvia G, Schwartz Peter J, Bloise Raffaella, Ronchetti Elena, Nastoli Janni, Bottelli Georgia, Cerrone Marina, Leonardi Serg |
| 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 12, 2022
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