HuGE Literature Finder
Records 1-30
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Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population.
Cardiology 2019 Nov 1-8. Wang Feng, Liu Yang, Liao Hongtao, Xue Yumei, Zhan Xianzhang, Fang Xianhong, Liang Yuanhong, Wei Wei, Rao Fang, Zhang Qianhuan, Deng Hai, Lin Yubi, Liu Fangzhou, Lin Weidong, Zhang Bin, Wu Shul |
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Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.
Annals of human genetics 2019 Nov . Li Xin, Liu Nian, Bai Ro |
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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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Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.
Fetal and pediatric pathology 2019 Apr 1-9. Vojdani Samaneh, Milanizadeh Saman, Molaei Fatemeh, Ajalloueyane Mohammad, Khosravi Arezoo, Hamzefzadeh Leila, Ghasemi Mohammad Mehdi, Talee Mohammad Reza, Abbaszadegan Mohammad Re |
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Associations between common ion channel single nucleotide polymorphisms and sudden cardiac death in adults: A MOOSE-compliant meta-analysis.
Medicine 2018 Sep 97 (38): e12428. Liu Xiaoli, Shi Jianli, Xiao Peil |
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QT length during methadone maintenance treatment: Gene x dose interaction.
Fundamental & clinical pharmacology 2018 Aug . Zerdazi El-Hadi, Vorspan Florence, Marees Andries T, Naccache François, Lepine Jean-Pierre, Laplanche Jean-Louis, Prince Nathalie, Marie-Claire Cynthia, Bellivier Frank, Mouly Stéphane, Bloch Vanes |
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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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QTc prolongation in short-term treatment of schizophrenia patients: effects of different antipsychotics and genetic factors.
European archives of psychiatry and clinical neuroscience 2018 Feb . Spellmann Ilja, Reinhard Matthias A, Veverka Diana, Zill Peter, Obermeier Michael, Dehning Sandra, Schennach Rebecca, Müller Norbert, Möller Hans-Jürgen, Riedel Michael, Musil Richa |
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Ethnic Differences in Genetic Ion Channelopathies Associated with Sudden Cardiac Death: A Systematic Review and Meta-Analysis.
Annals of clinical and laboratory science 2017 Aug 47 (4): 481-490. Kong Tim, Feulefack Joseph, Ruether Kim, Shen Fan, Zheng Wang, Chen Xing-Zhen, Sergi Consola |
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Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.
BMC medical genetics 2017 07 18 (1): 74. Winbo Annika, Stattin Eva-Lena, Westin Ida Maria, Norberg Anna, Persson Johan, Jensen Steen M, Rydberg Anni |
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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 Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
Circulation. Cardiovascular genetics 2016 Aug 9 (4): 330-9. Crotti Lia, Lahtinen Annukka M, Spazzolini Carla, Mastantuono Elisa, Monti Maria Cristina, Morassutto Caterina, Parati Gianfranco, Heradien Marshall, Goosen Althea, Lichtner Peter, Meitinger Thomas, Brink Paul A, Kontula Kimmo, Swan Heikki, Schwartz Peter |
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The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths.
International journal of legal medicine 2016 Jul . Tzimas Iliana, Zingraf Jana-Christin, Bajanowski Thomas, Poetsch Micae |
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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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KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
American journal of medical genetics. Part A 2016 Apr . Vyas Bijal, Puri Ratna D, Namboodiri Narayanan, Nair Mohan, Sharma Deepak, Movva Sireesha, Saxena Renu, Bohora Shomu, Aggarwal Neeraj, Vora Amit, Kumar Jatinder, Singh Tarandeep, Verma Ishwar |
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The Influence of Pregnancy in Patients with Congenital Long QT Syndrome.
Cardiology in review 2016 Mar . Garg Lohit, Garg Jalaj, Krishnamoorthy Parasuram, Ahnert Amy, Shah Neeraj, Dusaj Raman S, Bozorgnia Bab |
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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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TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.
Cardiovascular research 2016 Jan . Ma Ji-Fang, Yang Fan, Mahida Saagar N, Zhao Ling, Chen Xiaomin, Zhang Michael L, Sun Zhijun, Yao Yan, Zhang Yi-Xin, Zheng Gu-Yan, Dong Jie, Feng Ming-Jun, Zhang Rui, Sun Jian, Li Shuo, Wang Qun-Shan, Cao Huiqing, Benjamin Emelia J, Ellinor Patrick T, Li Yi-Gang, Tian Xiao- |
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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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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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Reassuring News for Genetically Tested, Appropriately Treated, Low-Risk LQTS Patients.
Journal of cardiovascular electrophysiology 2015 Aug 26 (8): 859-61. Lampert Rach |
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Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome.
Circulation. Arrhythmia and electrophysiology 2015 Aug 8 (4): 806-14. Winbo Annika, Fosdal Inger, Lindh Maria, Diamant Ulla-Britt, Persson Johan, Wettrell Göran, Rydberg Anni |
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Genetic variants of potassium voltage-gated channel genes (KCNQ1, KCNH2, and KCNE1) affected the risk of atrial fibrillation in elderly patients.
Genetic testing and molecular biomarkers 2015 Jul 19 (7): 359-65. Li Li, Shen Chao, Yao Zhaohui, Liang Jinjun, Huang Congx |
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Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
Circulation. Arrhythmia and electrophysiology 2015 Jun . Hayashi Kenshi, Konno Tetsuo, Tada Hayato, Tani Satoyuki, Liu Li, Fujino Noboru, Nohara Atsushi, Hodatsu Akihiko, Tsuda Toyonobu, Tanaka Yoshihiro, Kawashiri Masa-Aki, Ino Hidekazu, Makita Naomasa, Yamagishi Masaka |
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Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Journal of cardiovascular translational research 2015 Apr 8 (3): 187-97. Kapplinger Jamie D, Tseng Andrew S, Salisbury Benjamin A, Tester David J, Callis Thomas E, Alders Marielle, Wilde Arthur A M, Ackerman Michael |
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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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Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.
Journal of the American College of Cardiology 2015 Feb 65 (4): 367-74. Porta Alberto, Girardengo Giulia, Bari Vlasta, George Alfred L, Brink Paul A, Goosen Althea, Crotti Lia, Schwartz Peter |
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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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AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
Circulation. Cardiovascular genetics 2014 Oct 7 (5): 599-606. de Villiers Carin P, van der Merwe Lize, Crotti Lia, Goosen Althea, George Alfred L, Schwartz Peter J, Brink Paul A, Moolman-Smook Johanna C, Corfield Valerie |
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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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Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Heart rhythm : the official journal of the Heart Rhythm Society 2014 Feb 11 (2): 246-51. Olesen Morten S, Andreasen Laura, Jabbari Javad, Refsgaard Lena, Haunsø Stig, Olesen Søren-Peter, Nielsen Jonas B, Schmitt Nicole, Svendsen Jesper |
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Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2014 Jan 11 (1): 76-82. Earle Nikki, Yeo Han Dug, Pilbrow Anna, Crawford Jackie, Smith Warren, Shelling Andrew N, Cameron Vicky, Love Donald R, Skinner Jonathan |
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Single nucleotide polymorphisms in proximity to K-channel genes are associated with decreased longitudinal QTc variance.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2014 Jan 19 (1): 63-9. Mints Yuliya, Zipunnikov Vadim, Khurram Irfan, Calkins Hugh, Nazarian Sam |
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Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene.
Journal of applied physiology (Bethesda, Md. : 1985) 2013 Nov 115 (10): 1423-32. Diamant Ulla-Britt, Vahedi Farzad, Winbo Annika, Rydberg Annika, Stattin Eva-Lena, Jensen Steen M, Bergfeldt Lenna |
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Association between KCNQ1 genetic variants and QT interval in a Chinese population.
Diabetic medicine : a journal of the British Diabetic Association 2013 Oct 30 (10): 1225-9. Yu W, Zhang F, Hu W, Zhang R, Wang C, Lu J, Jiang F, Tang S, Peng D, Chen M, Bao Y, Xiang K, Hu C, Jia |
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Mutation location effect on severity of phenotype during exercise testing in type 1 long-QT syndrome: impact of transmembrane and C-loop location.
Journal of cardiovascular electrophysiology 2013 Sep 24 (9): 1015-20. Laksman Zachary W M, Hamilton Robert M, Chockalingam Priya, Ballantyne Emily, Stephenson Elizabeth A, Gross Gil J, Gula Lorne J, Klein George J, Wilde Arthur A M, Krahn Andrew |
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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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IKs 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 |
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Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia.
Journal of Korean medical science 2013 Jul 28 (7): 1021-6. Son Myoung Kyun, Ki Chang-Seok, Park Seung-Jung, Huh June, Kim June Soo, On Young Ke |
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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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Do LQTS gene single nucleotide polymorphisms alter QTc intervals at rest and during exercise stress testing?
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2013 May 18 (3): 288-93. Aziz Peter F, Wieand Tammy S, Ganley Jamie, Henderson Jacqueline, McBride Michael, Shah Maully |
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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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[KCNQ1 mutation in patients with lone atrial fibrillation].
Zhonghua xin xue guan bing za zhi 2013 Jan 41 (1): 8-12. Feng Ming-jun, Chu Hui-min, Cui Han-bin, He Bin, Liu Jing, Yu Yi-bo, Shen Cai-jie, Chen Xiao-M |
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Prognostic Implications of Mutation Specific QTc Standard Deviation in Congenital Long QT Syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2013 Jan . Mathias A, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Platonov PG, Qi M, Shimizu W, Towbin JA, Michael Vincent G, Wilde AA, Zhang L, Goldenberg I |
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Return to play? Athletes with congenital long QT syndrome.
British journal of sports medicine 2013 Jan 47 (1): 28-33. Johnson Jonathan N, Ackerman Michael |
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Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.
TheScientificWorldJournal 2013 2013 373454. Chu Hui-min, Feng Ming-jun, Li Yi-gang, Zhang Yi-xin, Ma Ji-fang, He Bin, Yu Yi-bo, Liu Jing, Chen Xiao-m |
Impact of ancestry and common genetic variants on QT interval in African Americans.
Circulation. Cardiovascular genetics 2012 Dec 5 (6): 647-55. Smith J Gustav, Avery Christy L, Evans Daniel S, Nalls Michael A, Meng Yan A, Smith Erin N, Palmer Cameron, Tanaka Toshiko, Mehra Reena, Butler Anne M, Young Taylor, Buxbaum Sarah G, Kerr Kathleen F, Berenson Gerald S, Schnabel Renate B, Li Guo, Ellinor Patrick T, Magnani Jared W, Chen Wei, Bis Joshua C, Curb J David, Hsueh Wen-Chi, Rotter Jerome I, Liu Yongmei, Newman Anne B, Limacher Marian C, North Kari E, Reiner Alexander P, Quibrera P Miguel, Schork Nicholas J, Singleton Andrew B, Psaty Bruce M, Soliman Elsayed Z, Solomon Allen J, Srinivasan Sathanur R, Alonso Alvaro, Wallace Robert, Redline Susan, Zhang Zhu-Ming, Post Wendy S, Zonderman Alan B, Taylor Herman A, Murray Sarah S, Ferrucci Luigi, Arking Dan E, Evans Michele K, Fox Ervin R, Sotoodehnia Nona, Heckbert Susan R, Whitsel Eric A, Newton-Cheh Christopher, |
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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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Risk of Life Threatening Cardiac Events among Patients with Long QT Syndrome and Multiple Mutations.
Heart rhythm : the official journal of the Heart Rhythm Society 2012 Nov . Mullally J, Goldenberg I, Moss AJ, Lopes CM, Ackerman MJ, Zareba W, McNitt S, Robinson JL, Benhorin J, Kaufman ES, Towbin JA, Barsheshet A |
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Vagal Reflexes Following an Exercise Stress Test: A Simple Clinical Tool for Gene-Specific Risk Stratification in the Long QT Syndrome.
Journal of the American College of Cardiology 2012 Nov . Crotti L, Spazzolini C, Porretta AP, Dagradi F, Taravelli E, Petracci B, Vicentini A, Pedrazzini M, La Rovere MT, Vanoli E, Goosen A, Heradien M, George AL, Brink PA, Schwartz PJ |
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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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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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Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events: Implications for Mutation-Specific Response to Beta-Blocker Therapy in Type-1 Long QT Syndrome.
Circulation 2012 Mar . Barsheshet A, Goldenberg I, O-Uchi J, Moss AJ, Jons C, Shimizu W, Wilde AA, McNitt S, Peterson DR, Zareba W, Robinson JL, Ackerman MJ, Cypress M, Gray DA, Hofman N, Kanters JK, Kaufman ES, Platonov PG, Qi M, Towbin JA, Vincent GM, Lopes CM |
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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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Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome.
Circulation. Arrhythmia and electrophysiology 2011 Dec 4 (6): 867-73. Aziz Peter F, Wieand Tammy S, Ganley Jamie, Henderson Jacqueline, Patel Akash R, Iyer V Ramesh, Vogel R Lee, McBride Michael, Vetter Victoria L, Shah Maully |
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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
European heart journal 2011 Dec . Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, Tanck MW, Kapplinger JD, Hofman N, Sinner MF, Müller M, Wijnen WJ, Tan HL, Bezzina CR, Creemers EE, Wilde AA, Ackerman MJ, Pinto YM |
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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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Prospective evaluation of corrected QT intervals and arrhythmias after exposure to epirubicin, cyclophosphamide, and 5-fluorouracil in women with breast cancer.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2011 Jun . Kitagawa K, Kawada K, Morita S, Inada M, Mitsuma A, Sawaki M, Iino S, Inden Y, Murohara T, Imai T, Ando Y |
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Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2.
Circulation 2011 Jun 123 (24): 2784-91. Buber Jonathan, Mathew Jehu, Moss Arthur J, Hall W Jackson, Barsheshet Alon, McNitt Scott, Robinson Jennifer L, Zareba Wojciech, Ackerman Michael J, Kaufman Elizabeth S, Luria David, Eldar Michael, Towbin Jeffrey A, Vincent Michael, Goldenberg Il |
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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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Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
Heart rhythm : the official journal of the Heart Rhythm Society 2011 Mar 8 (3): 412-9. Skinner Jonathan R, Crawford Jackie, Smith Warren, Aitken Andrew, Heaven David, Evans Cary-Anne, Hayes Ian, Neas Katherine R, Stables Simon, Koelmeyer Timothy, Denmark Lloyd, Vuletic Jane, Maxwell Fraser, White Kate, Yang Tao, Roden Dan M, Leren Trond P, Shelling Andrew, Love Donald R, |
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Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
Science translational medicine 2011 Mar 3 (76): 76ra28. Jons Christian, O-Uchi Jin, Moss Arthur J, Reumann Matthias, Rice John J, Goldenberg Ilan, Zareba Wojciech, Wilde Arthur A M, Shimizu Wataru, Kanters Jorgen K, McNitt Scott, Hofman Nynke, Robinson Jennifer L, Lopes Coeli M |
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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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Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Oct 7 (10): 1411-8. Itoh Hideki, Shimizu Wataru, Hayashi Kenshi, Yamagata Kenichiro, Sakaguchi Tomoko, Ohno Seiko, Makiyama Takeru, Akao Masaharu, Ai Tomohiko, Noda Takashi, Miyazaki Aya, Miyamoto Yoshihiro, Yamagishi Masakazu, Kamakura Shiro, Horie Mino |
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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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Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction.
Circulation 2010 Oct 122 (14): 1355-63. Haugaa Kristina Hermann, Amlie Jan P, Berge Knut Erik, Leren Trond P, Smiseth Otto A, Edvardsen Th |
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Gene-specific paradoxical QT responses during rapid eye movement sleep in women with congenital long QT syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Aug 7 (8): 1067-74. Lanfranchi Paola A, Ackerman Michael J, Kara Tomas, Shamsuzzaman Abu S M, Wolk Robert, Jurak Pavel, Amin Raouf, Somers Virend |
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Utility of the recovery electrocardiogram after exercise: a novel indicator for the diagnosis and genotyping of long QT syndrome?
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jul 7 (7): 906-11. Chattha Ishvinder S, Sy Raymond W, Yee Raymond, Gula Lorne J, Skanes Allan C, Klein George J, Bennett Matthew T, Krahn Andrew |
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Common variants in cardiac ion channel genes are associated with sudden cardiac death.
Circulation. Arrhythmia and electrophysiology 2010 Jun 3 (3): 222-9. Albert Christine M, MacRae Calum A, Chasman Daniel I, VanDenburgh Martin, Buring Julie E, Manson JoAnn E, Cook Nancy R, Newton-Cheh Christoph |
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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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Utility of treadmill testing in identification and genotype prediction in long-QT syndrome.
Circulation. Arrhythmia and electrophysiology 2010 Apr 3 (2): 120-5. Wong Jorge A, Gula Lorne J, Klein George J, Yee Raymond, Skanes Allan C, 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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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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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 |
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Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
Journal of cardiovascular electrophysiology 2009 Aug 20 (8): 859-65. Jons Christian, Moss Arthur J, Lopes Coeli M, McNitt Scott, Zareba Wojciech, Goldenberg Ilan, Qi Ming, Wilde Arthur A M, Shimizu Wataru, Kanters Jorgen K, Towbin Jeffrey A, Ackerman Michael J, Robinson Jennifer |
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Common variants at ten loci influence QT interval duration in the QTGEN Study.
Nature genetics 2009 Apr 41 (4): 4. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG, Stricker BH |
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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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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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Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2009 Jan 14 (1): 72-9. Lehtinen Allison B, Daniel Kurt R, Shah Sidharth A, Nelson Matthew R, Ziegler Julie T, Freedman Barry I, Carr J Jeffrey, Herrington David M, Langefeld Carl D, Bowden Donald |
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Depressive symptoms in the congenital long QT syndrome.
Annals of medicine 2009 41 (7): 516-21. Hintsa Taina, Keltikangas-Järvinen Liisa, Puttonen Sampsa, Ravaja Niklas, Toivonen Lauri, Kontula Kimmo, Swan Heik |
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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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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? |
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Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2008 Apr 13 (2): 180-90. Zhang Yu, Chang Bingxi, Hu Songnian, Wang Duenmei, Fang Quan, Huang Xianyong, Zeng Qiang, Qi Mi |
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Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.
Heart rhythm : the official journal of the Heart Rhythm Society 2008 Mar 5 (3): 427-35. Ravn Lasse S, Aizawa Yoshiyasu, Pollevick Guido D, Hofman-Bang Jacob, Cordeiro Jonathan M, Dixen Ulrik, Jensen Gorm, Wu Yuesheng, Burashnikov Elena, Haunso Stig, Guerchicoff Alejandra, Hu Dan, Svendsen Jesper H, Christiansen Michael, Antzelevitch Charl |
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Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome.
Journal of the American College of Cardiology 2008 Mar 51 (9): 920-9. Schwartz Peter J, Vanoli Emilio, Crotti Lia, Spazzolini Carla, Ferrandi Chiara, Goosen Althea, Hedley Paula, Heradien Marshall, Bacchini Sara, Turco Annalisa, La Rovere Maria Teresa, Bartoli Antonella, George Alfred L, Brink Paul |
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Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Scandinavian journal of clinical and laboratory investigation 2008 68 (5): 362-8. Berge K E, Haugaa K H, Früh A, Anfinsen O-G, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum T O, Hallerud M, Kongsgård E, Amlie J P, Leren T |
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Novel KCNQ1 mutations in patients after myocardial infarction.
Cardiology journal 2008 15 (3): 252-60. Olszak-Wa?kiewicz Marlena, Dziuk Miros?aw, Kubik Leszek, Kaczanowski Rados?aw, Kucharczyk Krzyszt |
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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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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 |
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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Circulation 2007 May 115 (19): 2481-9. Moss Arthur J, Shimizu Wataru, Wilde Arthur A M, Towbin Jeffrey A, Zareba Wojciech, Robinson Jennifer L, Qi Ming, Vincent G Michael, Ackerman Michael J, Kaufman Elizabeth S, Hofman Nynke, Seth Rahul, Kamakura Shiro, Miyamoto Yoshihiro, Goldenberg Ilan, Andrews Mark L, McNitt Sco |
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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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