Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 42 Records) |
Query Trace: Syndrome and KCNE2[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 |
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 |
Confirmed rare copy number variants implicate novel genes in schizophrenia. Biochemical Society transactions 2010 Apr 38 (2): 445-51. Tam Gloria W C, van de Lagemaat Louie N, Redon Richard, Strathdee Karen E, Croning Mike D R, Malloy Mary P, Muir Walter J, Pickard Ben S, Deary Ian J, Blackwood Douglas H R, Carter Nigel P, Grant Seth G |
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 |
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. Journal of the American College of Cardiology 2014 Apr 63 (14): 1430-7. Weeke Peter, Mosley Jonathan D, Hanna David, Delaney Jessica T, Shaffer Christian, Wells Quinn S, Van Driest Sara, Karnes Jason H, Ingram Christie, Guo Yan, Shyr Yu, Norris Kris, Kannankeril Prince J, Ramirez Andrea H, Smith Joshua D, Mardis Elaine R, Nickerson Deborah, George Alfred L, Roden Dan |
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, |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
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 |
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy. BMC cardiovascular disorders 2019 Jul 19 (1): 174. Raju Hariharan, Ware James S, Skinner Jonathan R, Hedley Paula L, Arno Gavin, Love Donald R, van der Werf Christian, Tfelt-Hansen Jacob, Winkel Bo Gregers, Cohen Marta C, Li Xinzhong, John Shibu, Sharma Sanjay, Jeffery Steve, Wilde Arthur A M, Christiansen Michael, Sheppard Mary N, Behr Elijah |
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