Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: Long QT Syndrome and KCNE2[original query] |
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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart rhythm : the official journal of the Heart Rhythm Society 2005 May 2 (5): 507-17. Tester David J, Will Melissa L, Haglund Carla M, Ackerman Michael |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. American journal of medical genetics. Part A 2015 Aug . Bowles Neil E, Jou Chuanchau J, Arrington Cammon B, Kennedy Brett J, Earl Aubree, Matsunami Norisada, Meyers Lindsay L, Etheridge Susan P, Saarel Elizabeth V, Bleyl Steven B, Yost H Joseph, Yandell Mark, Leppert Mark F, Tristani-Firouzi Martin, Gruber Peter J, |
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 |
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? Circulation. Arrhythmia and electrophysiology 2017 8 10 (8): . Roberts Jason D, Krahn Andrew D, Ackerman Michael J, Rohatgi Ram K, Moss Arthur J, Nazer Babak, Tadros Rafik, Gerull Brenda, Sanatani Shubhayan, Wijeyeratne Yanushi D, Baruteau Alban-Elouen, Muir Alison R, Pang Benjamin, Cadrin-Tourigny Julia, Talajic Mario, Rivard Lena, Tester David J, Liu Taylor, Whitman Isaac R, Wojciak Julianne, Conacher Susan, Gula Lorne J, Leong-Sit Peter, Manlucu Jaimie, Green Martin S, Hamilton Robert, Healey Jeff S, Lopes Coeli M, Behr Elijah R, Wilde Arthur A, Gollob Michael H, Scheinman Melvin |
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 |
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. Endocrine connections 2018 4 7 (5): 645-652. Iivonen Anna-Pauliina, Känsäkoski Johanna, Karppinen Atte, Kivipelto Leena, Schalin-Jäntti Camilla, Karhu Auli, Raivio Tane |
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 |
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