HuGE Literature Finder
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Records 1-78
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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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Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients.
Pediatric cardiology 2018 Aug . Alharbi Khalid M, Al-Mazroea Abdelhadi H, Abdallah Atiyeh M, Almohammadi Yousef, Carlus S Justin, Basit Sulm |
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Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers With Normal QTc Interval: The Value of Sex, T-Wave Morphology, and Mutation Type.
Circulation. Arrhythmia and electrophysiology 2018 Jul 11 (7): e005918. Platonov Pyotr G, McNitt Scott, Polonsky Bronislava, Rosero Spencer Z, Kutyifa Valentina, Huang Allison, Moss Arthur J, Zareba Wojcie |
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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 |
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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 |
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Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Journal of the American College of Cardiology 2018 Mar 71 (11): 1217-1227. Tester David J, Wong Leonie C H, Chanana Pritha, Jaye Amie, Evans Jared M, FitzPatrick David R, Evans Margaret J, Fleming Peter, Jeffrey Iona, Cohen Marta C, Tfelt-Hansen Jacob, Simpson Michael A, Behr Elijah R, Ackerman Michael |
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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 |
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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 |
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Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.
Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
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Genetic biomarkers for the risk of seizures in long QT syndrome.
Neurology 2016 Oct 87 (16): 1660-1668. Auerbach David S, McNitt Scott, Gross Robert A, Zareba Wojciech, Dirksen Robert T, Moss Arthur |
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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 |
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Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
International journal of legal medicine 2016 Feb . Neubauer Jacqueline, Haas Cordula, Bartsch Christine, Domingo-Medeiros Argelia, Berger Wolfga |
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Pediatric Cohort With Long QT Syndrome?- KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.
Circulation journal : official journal of the Japanese Circulation Society 2016 Jan . Ozawa Junichi, Ohno Seiko, Hisamatsu Takashi, Itoh Hideki, Makiyama Takeru, Suzuki Hiroshi, Saitoh Akihiko, Horie Mino |
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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- |
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[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 |
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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 |
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Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy.
Annals of neurology 2015 Dec . Bagnall Richard D, Crompton Douglas E, Petrovski Slavé, Lam Lien, Cutmore Carina, Garry Sarah I, Sadleir Lynette G, Dibbens Leanne M, Cairns Anita, Kivity Sara, Afawi Zaid, Regan Brigid M, Duflou Johan, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christoph |
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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 |
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Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.
European journal of human genetics : EJHG 2015 Sep . Hertz Christin Loeth, Christiansen Sofie Lindgren, Larsen Maiken Kudahl, Dahl Morten, Ferrero-Miliani Laura, Weeke Peter Ejvind, Pedersen Oluf, Hansen Torben, Grarup Niels, Ottesen Gyda Lolk, Frank-Hansen Rune, Banner Jytte, Morling Nie |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Genetic modifier of the QTc interval associated with early-onset atrial fibrillation.
The Canadian journal of cardiology 2013 Oct 29 (10): 1234-40. Andreasen Laura, Nielsen Jonas B, Christophersen Ingrid E, Holst Anders Gaarsdal, Sajadieh Ahmad, Tveit Arnljot, Haunsø Stig, Svendsen Jesper H, Schmitt Nicole, Olesen Morten |
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Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
The Canadian journal of cardiology 2013 Sep 29 (9): 1104-9. Andreasen Charlotte, Refsgaard Lena, Nielsen Jonas B, Sajadieh Ahmad, Winkel Bo G, Tfelt-Hansen Jacob, Haunsø Stig, Holst Anders G, Svendsen Jesper H, Olesen Morten |
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Arrhythmia Phenotype during Fetal Life Suggests LQTS Genotype: Risk Stratification of Perinatal Long QT Syndrome.
Circulation. Arrhythmia and electrophysiology 2013 Aug . Cuneo BF, Etheridge SP, Horigome H, Sallee D, Moon-Grady A, Weng HY, Ackerman MJ, Benson DW |
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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
Circulation. Cardiovascular genetics 2013 Aug 6 (4): 354-61. Duchatelet Sabine, Crotti Lia, Peat Rachel A, Denjoy Isabelle, Itoh Hideki, Berthet Myriam, Ohno Seiko, Fressart Véronique, Monti Maria Cristina, Crocamo Cristina, Pedrazzini Matteo, Dagradi Federica, Vicentini Alessandro, Klug Didier, Brink Paul A, Goosen Althea, Swan Heikki, Toivonen Lauri, Lahtinen Annukka M, Kontula Kimmo, Shimizu Wataru, Horie Minoru, George Alfred L, Trégouët David-Alexandre, Guicheney Pascale, Schwartz Peter |
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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 |
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Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.
Annals of medicine 2013 Jun 45 (4): 328-35. Lahtinen Annukka M, Havulinna Aki S, Noseworthy Peter A, Jula Antti, Karhunen Pekka J, Perola Markus, Newton-Cheh Christopher, Salomaa Veikko, Kontula Kim |
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Long QT syndrome-associated mutations in intrauterine fetal death.
JAMA 2013 Apr 309 (14): 1473-82. Crotti Lia, Tester David J, White Wendy M, Bartos Daniel C, Insolia Roberto, Besana Alessandra, Kunic Jennifer D, Will Melissa L, Velasco Ellyn J, Bair Jennifer J, Ghidoni Alice, Cetin Irene, Van Dyke Daniel L, Wick Myra J, Brost Brian, Delisle Brian P, Facchinetti Fabio, George Alfred L, Schwartz Peter J, Ackerman Michael |
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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 |
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Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses.
Heart rhythm : the official journal of the Heart Rhythm Society 2012 Dec 9 (12): 1977-82. Medlock Morgan M, Tester David J, Will Melissa L, Bos J Martijn, Ackerman Michael |
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The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.
Journal of cardiovascular electrophysiology 2012 Oct 23 (10): 1092-8. Winkel Bo Gregers, Larsen Maiken Kudahl, Berge Knut Erik, Leren Trond Paul, Nissen Peter Henrik, Olesen Morten Salling, Hollegaard Mads Vilhelm, Jespersen Thomas, Yuan Lei, Nielsen Nikolaj, Haunsø Stig, Svendsen Jesper Hastrup, Wang Yinman, Kristensen Ingrid Bayer, Jensen Henrik Kjaerulf, Tfelt-Hansen Jacob, Banner Jyt |
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Genetic variation in KCNH2 associated with expression in the brain of a unique hERG isoform modulates treatment response in patients with schizophrenia.
The American journal of psychiatry 2012 Jul 169 (7): 725-34. Apud José A, Zhang Fengyu, Decot Heather, Bigos Kristin L, Weinberger Daniel |
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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 |
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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 |
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Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2011 Oct 8 (10): 1537-43. Migdalovich Dimitry, Moss Arthur J, Lopes Coeli M, Costa Jason, Ouellet Gregory, Barsheshet Alon, McNitt Scott, Polonsky Slava, Robinson Jennifer L, Zareba Wojciech, Ackerman Michael J, Benhorin Jesaia, Kaufman Elizabeth S, Platonov Pyotr G, Shimizu Wataru, Towbin Jeffrey A, Vincent G Michael, Wilde Arthur A M, Goldenberg Il |
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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 |
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Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.
Brain pathology (Zurich, Switzerland) 2011 Mar 21 (2): 201-8. Tu Emily, Bagnall Richard D, Duflou Johan, Semsarian Christoph |
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Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Clinica chimica acta; international journal of clinical chemistry 2011 Jan 412 (1-2): 203-7. Millat Gilles, Chanavat Valérie, Créhalet Hervé, Rousson Robe |
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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 |
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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 |
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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jul 7 (7): 912-9. Tester David J, Valdivia Carmen, Harris-Kerr Carole, Alders Marielle, Salisbury Benjamin A, Wilde Arthur A M, Makielski Jonathan C, Ackerman Michael |
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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 |
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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 |
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Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study.
Behavioral and brain functions : BBF 2010 6 (1): 27. Atalar Fatmahan, Acuner Tufan Tevfik, Cine Naci, Oncu Fatih, Yesilbursa Dogan, Ozbek Ugur, Turkcan Solm |
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Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
Circulation 2009 Nov 120 (18): 1752-60. Kapa Suraj, Tester David J, Salisbury Benjamin A, Harris-Kerr Carole, Pungliya Manish S, Alders Marielle, Wilde Arthur A M, Ackerman Michael |
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Genotype-phenotype aspects of type 2 long QT syndrome.
Journal of the American College of Cardiology 2009 Nov 54 (22): 2052-62. Shimizu Wataru, Moss Arthur J, Wilde Arthur A M, Towbin Jeffrey A, Ackerman Michael J, January Craig T, Tester David J, Zareba Wojciech, Robinson Jennifer L, Qi Ming, Vincent G Michael, Kaufman Elizabeth S, Hofman Nynke, Noda Takashi, Kamakura Shiro, Miyamoto Yoshihiro, Shah Samit, Amin Vinit, Goldenberg Ilan, Andrews Mark L, McNitt Sco |
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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 |
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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 |
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Nature genetics 2009 Apr 41 (4): 4. Pfeufer A, Sanna S, Arking DE, Müller M, Gateva V, Fuchsberger C, Ehret GB, Orrú M, Pattaro C, Köttgen A, Perz S, Usala G, Barbalic M, Li M, Pütz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Mühleisen TW, Dei M, Happle C, Möhlenkamp S, Crisponi L, Erbel R, Jöckel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Müller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kääb S, Abecasis GR, Chakravarti A |
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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 |
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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 |
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High prevalence of four long QT syndrome founder mutations in the Finnish population.
Annals of medicine 2009 41 (3): 234-40. Marjamaa Annukka, Salomaa Veikko, Newton-Cheh Christopher, Porthan Kimmo, Reunanen Antti, Karanko Hannu, Jula Antti, Lahermo Päivi, Väänänen Heikki, Toivonen Lauri, Swan Heikki, Viitasalo Matti, Nieminen Markku S, Peltonen Leena, Oikarinen Lasse, Palotie Aarno, Kontula Kim |
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Cardiac ion channel gene mutations in sudden infant death syndrome.
Pediatric research 2008 Nov 64 (5): 482-7. Otagiri Tesshu, Kijima Kazuki, Osawa Motoki, Ishii Kuniaki, Makita Naomasa, Matoba Ryoji, Umetsu Kazuo, Hayasaka Kiyos |
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Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
Circulation journal : official journal of the Japanese Circulation Society 2008 May 72 (5): 694-9. Nagaoka Iori, Shimizu Wataru, Itoh Hideki, Yamamoto Satoshi, Sakaguchi Tomoko, Oka Yuko, Tsuji Keiko, Ashihara Takashi, Ito Makoto, Yoshida Hidetada, Ohno Seiko, Makiyama Takeru, Miyamoto Yoshihiro, Noda Takashi, Kamakura Shiro, Akao Masaharu, Horie Mino |
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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
BMC medical genetics 2008 9 (1): 87. Zhang Xianqin, Chen Shenghan, Zhang Li, Liu Mugen, Redfearn Sharon, Bryant Randall M, Oberti Carlos, Vincent G Michael, Wang Qing |
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Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study.
Circulation 2007 Sep 116 (10): 1128-36. Newton-Cheh Christopher, Guo Chao-Yu, Larson Martin G, Musone Stacy L, Surti Aarti, Camargo Amy L, Drake Jared A, Benjamin Emelia J, Levy Daniel, D'Agostino Ralph B, Hirschhorn Joel N, O'donnell Christopher |
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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 |
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A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome.
Acta paediatrica (Oslo, Norway : 1992) 2007 Feb 96 (2): 206-10. Arnestad Marianne, Opdal Siri Hauge, Vege Ashild, Rognum Torleiv O |
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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 |
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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 |
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Gastrointestinal symptoms in families of patients with an SCN5A-encoded cardiac channelopathy: evidence of an intestinal channelopathy.
The American journal of gastroenterology 2006 Jun 101 (6): 1299-304. Locke G Richard, Ackerman Michael J, Zinsmeister Alan R, Thapa Prabin, Farrugia Gianri |
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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 |
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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 |
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Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study.
Circulation research 2005 Apr 96 (6): 693-701. Pfeufer Arne, Jalilzadeh Shapour, Perz Siegfried, Mueller Jakob C, Hinterseer Martin, Illig Thomas, Akyol Mahmut, Huth Cornelia, Schöpfer-Wendels Andreas, Kuch Bernhard, Steinbeck Gerhard, Holle Rolf, Näbauer Michael, Wichmann H-Erich, Meitinger Thomas, Kääb Stef |
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Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.
Journal of human genetics 2005 50 (9): 490-6. Lai Ling-Ping, Su Yi-Ning, Hsieh Fon-Jou, Chiang Fu-Tien, Juang Jyh-Ming, Liu Yen-Bin, Ho Yi-Lwun, Chen Wen-Jone, Yeh San-Jou, Wang Chun-Chieh, Ko Yu-Lin, Wu Tsu-Juey, Ueng Kwo-Chang, Lei Meng-Huan, Tsao Hsuan-Ming, Chen Shih-Ann, Lin Tin-Kwang, Wu Mei-Hwan, Lo Huey-Ming, Huang Shoei K Stephen, Lin Jiunn-L |
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Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Journal of molecular medicine (Berlin, Germany) 2004 Mar 82 (3): 182-8. Paulussen Aimée D C, Gilissen Ronaldus A H J, Armstrong Martin, Doevendans Pieter A, Verhasselt Peter, Smeets Hubert J M, Schulze-Bahr Eric, Haverkamp Wilhelm, Breithardt Günter, Cohen Nadine, Aerssens Jero |
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Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
Mayo Clinic proceedings 2003 Dec 78 (12): 1479-87. Ackerman Michael J, Tester David J, Jones Gregg S, Will Melissa L, Burrow Christopher R, Curran Mark |
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Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.
International journal of legal medicine 2003 Apr 117 (2): 115-7. Lunetta Philippe, Levo Antti, Laitinen Päivi J, Fodstad Heidi, Kontula Kimmo, Sajantila Ant |
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DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Human mutation 2002 Nov 20 (5): 382-91. Jongbloed Roselie, Marcelis Carlo, Velter Crool, Doevendans Pieter, Geraedts Joep, Smeets Hube |
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Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.
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Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome.
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