Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 49 Records) |
Query Trace: Long QT Syndrome and KCNE1[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 |
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 |
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 |
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 |
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. Journal of the American College of Cardiology 2010 12 57 (1): 40-7. Barc Julien, Briec François, Schmitt Sébastien, Kyndt Florence, Le Cunff Martine, Baron Estelle, Vieyres Claude, Sacher Frédéric, Redon Richard, Le Caignec Cédric, Le Marec Hervé, Probst Vincent, Schott Jean-Jacqu |
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 |
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 |
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 |
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 |
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 |
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 |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. Biochimica et biophysica acta 2011 1 1812 (4): 488-94. Aidery Parwez, Kisselbach Jana, Schweizer Patrick A, Becker Rüdiger, Katus Hugo A, Thomas Die |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea. Journal of Korean medical science 2018 8 33 (32): e200. Son Min-Jeong, Kim Min-Kyoung, Yang Kyung-Moo, Choi Byung-Ha, Lee Bong Woo, Yoo Seong |
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 |
Cardiac Arrest Associated with Both an Anomalous Left Coronary Artery and KCNE1 Polymorphism. International heart journal 2019 7 60 (4): 1003-1005. Kawai Hideki, Watanabe Eiichi, Ohno Seiko, Horie Minoru, Ozaki Yuk |
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 |
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. Circulation 2020 1 141 (6): 429-439. Roberts Jason D, Asaki S Yukiko, Mazzanti Andrea, Bos J Martijn, Tuleta Izabela, Muir Alison R, Crotti Lia, Krahn Andrew D, Kutyifa Valentina, Shoemaker M Benjamin, Johnsrude Christopher L, Aiba Takeshi, Marcondes Luciana, Baban Anwar, Udupa Sharmila, Dechert Brynn, Fischbach Peter, Knight Linda M, Vittinghoff Eric, Kukavica Deni, Stallmeyer Birgit, Giudicessi John R, Spazzolini Carla, Shimamoto Keiko, Tadros Rafik, Cadrin-Tourigny Julia, Duff Henry J, Simpson Christopher S, Roston Thomas M, Wijeyeratne Yanushi D, El Hajjaji Imane, Yousif Maisoon D, Gula Lorne J, Leong-Sit Peter, Chavali Nikhil, Landstrom Andrew P, Marcus Gregory M, Dittmann Sven, Wilde Arthur A M, Behr Elijah R, Tfelt-Hansen Jacob, Scheinman Melvin M, Perez Marco V, Kaski Juan Pablo, Gow Robert M, Drago Fabrizio, Aziz Peter F, Abrams Dominic J, Gollob Michael H, Skinner Jonathan R, Shimizu Wataru, Kaufman Elizabeth S, Roden Dan M, Zareba Wojciech, Schwartz Peter J, Schulze-Bahr Eric, Etheridge Susan P, Priori Silvia G, Ackerman Michael |
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. 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 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
Genetic variants in Colombian patients with inherited cardiac conditions. Molecular genetics & genomic medicine 2022 10 10 (11): e2046. Rucinski Cynthia, Yunis Luz Karime, Rosas Fernando, Santacruz David, Camargo Juan Manuel, Yunis Juan Jo |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
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