HuGE Literature Finder
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Records 1-100
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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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A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population.
Electrophoresis 2018 Jun . Wang Jiaqi, Wang Xudong, Ma Zhihua, Yun Keming, Liu Jinding, Chen Deqing, Liu Zidong, Shi Jie, Li Zeqin, Gao Cairong, Du Qiuxiang, Zhang Gengqi |
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A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.
Journal of cardiovascular medicine (Hagerstown, Md.) 2018 May . Mazzaccara Cristina, Limongelli Giuseppe, Petretta Mario, Vastarella Rossella, Pacileo Giuseppe, Bonaduce Domenico, Salvatore Francesco, Frisso Giul |
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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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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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H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
Journal of biomedical science 2017 Dec 24 (1): 91. Matsumura Hiroya, Nakano Yukiko, Ochi Hidenori, Onohara Yuko, Sairaku Akinori, Tokuyama Takehito, Tomomori Shunsuke, Motoda Chikaaki, Amioka Michitaka, Hironobe Naoya, Toshishige Masaaki, Takahashi Shinya, Imai Katsuhiko, Sueda Taijiro, Chayama Kazuaki, Kihara Yasu |
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Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families.
JACC. Clinical electrophysiology 2017 Dec 3 (12): 1400-1408. Tadros Rafik, Nannenberg Eline A, Lieve Krystien V, Škori?-Milosavljevi? Doris, Lahrouchi Najim, Lekanne Deprez Ronald H, Vendrik Jeroen, Reckman Yolan J, Postema Pieter G, Amin Ahmad S, Bezzina Connie R, Wilde Arthur A M, Tan Hanno |
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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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Association of Polymorphism in SCN5A, GJA5, and KCNN3 Gene with Sudden Cardiac Death.
Bulletin of experimental biology and medicine 2017 Jun . Ivanova A A, Maksimov V N, Ivanoshchuk D E, Orlov P S, Novoselov V P, Savchenko S V, Voevoda M |
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An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.
Journal of the American Heart Association 2017 Apr 6 (4): . Cheng Jianding, Kyle John W, Lang Di, Wiedmeyer Brandi, Guo Jian, Yin Kun, Huang Lei, Vaidyanathan Ravi, Su Terry, Makielski Jonathan |
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Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
Journal of clinical laboratory analysis 2017 Mar 31 (2): . Priganc Mariana, Zigová Michaela, Boronová Iveta, Bernasovská Jarmila, Dojcáková Dana, Szabadosová Viktória, Mydlárová Blašcáková Marta, Tóthová Iveta, Kmec Ján, Bernasovský Iv |
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Sick Sinus Syndrome with HCN4 Mutations Shows Early Onset and Frequent Association with Atrial Fibrillation and Left Ventricular Non-compaction.
Heart rhythm 2017 Jan . Ishikawa Taisuke, Ohno Seiko, Murakami Takashi, Yoshida Kentaro, Mishima Hiroyuki, Fukuoka Tetsuya, Kimoto Hiroki, Sakamoto Risa, Ohkusa Takafumi, Aiba Takeshi, Nogami Akihiko, Sumitomo Naokata, Shimizu Wataru, Yoshiura Koh-Ichiro, Horigome Hitoshi, Horie Minoru, Makita Naoma |
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A Common Variant in SCN5A and the Risk of Ventricular Fibrillation Caused by First ST-Segment Elevation Myocardial Infarction.
PloS one 2017 12 (1): e0170193. Jabbari Reza, Glinge Charlotte, Jabbari Javad, Risgaard Bjarke, Winkel Bo Gregers, Terkelsen Christian Juhl, Tilsted Hans-Henrik, Jensen Lisette Okkels, Hougaard Mikkel, Haunsø Stig, Engstrøm Thomas, Albert Christine M, Tfelt-Hansen Jac |
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Fine mapping of QT regions in global populations refines previously identified QT loci and identifies signals unique to African and Hispanic descent populations.
Heart rhythm 2016 Dec . Avery Christy L, Wassel Christina L, Richard Melissa A, Highland Heather M, Bien Stephanie, Zubair Niha, Soliman Elsayed Z, Fornage Myriam, Bielinski Suzette J, Tao Ran, Seyerle Amanda A, Shah Sanjiv J, Lloyd-Jones Donald M, Buyske Steven, Rotter Jerome I, Post Wendy S, Rich Stephen S, Hindorff Lucia A, Jeff Janina M, Shohet Ralph V, Sotoodehnia Nona, Lin Dan Yu, Whitsel Eric A, Peters Ulrike, Haiman Christopher A, Crawford Dana C, Kooperberg Charles, North Kari |
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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 |
Fine-mapping, Novel Loci Identification, and SNP Association Transferability in a Genome-Wide Association Study of QRS Duration in African Americans.
Human molecular genetics 2016 Aug . Evans Daniel S, Avery Christy L, Nalls Mike A, Li Guo, Barnard John, Smith Erin N, Tanaka Toshiko, Butler Anne M, Buxbaum Sarah G, Alonso Alvaro, Arking Dan E, Berenson Gerald S, Bis Joshua C, Buyske Steven, Carty Cara L, Chen Wei, Chung Mina K, Cummings Steven R, Deo Rajat, Eaton Charles B, Fox Ervin R, Heckbert Susan R, Heiss Gerardo, Hindorff Lucia A, Hsueh Wen-Chi, Isaacs Aaron, Jamshidi Yalda, Kerr Kathleen F, Liu Felix, Liu Yongmei, Lohman Kurt K, Magnani Jared W, Maher Joseph F, Mehra Reena, Meng Yan A, Musani Solomon K, Newton-Cheh Christopher, North Kari E, Psaty Bruce M, Redline Susan, Rotter Jerome I, Schnabel Renate B, Schork Nicholas J, Shohet Ralph V, Singleton Andrew B, Smith Jonathan D, Soliman Elsayed Z, Srinivasan Sathanur R, Taylor Herman A, Van Wagoner David R, Wilson James G, Young Taylor, Zhang Zhu-Ming, Zonderman Alan B, Evans Michele K, Ferrucci Luigi, Murray Sarah S, Tranah Gregory J, Whitsel Eric A, Reiner Alex P, , Sotoodehnia No |
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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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An R1632C variant in the SCN5A gene causing Brugada syndrome.
Molecular medicine reports 2016 Apr . García-Molina Esperanza, Sabater-Molina María, Muñoz Carmen, Ruiz-Espejo Francisco, Gimeno Juan |
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Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
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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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The Prognostic Significance of Fever-Induced Brugada Syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2016 Mar . Mizusawa Yuka, Morita Hiroshi, Adler Arnon, Havakuk Ofer, Thollet Aurélie, Maury Philippe, Wang Dao W, Hong Kui, Gandjbakhch Estelle, Sacher Frédéric, Hu Dan, Amin Ahmad S, Lahrouchi Najim, Tan Hanno L, Antzelevitch Charles, Probst Vincent, Viskin Sami, Wilde Arthur A |
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Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current.
Circulation. Arrhythmia and electrophysiology 2016 Jan 9 (1): . Nakano Yukiko, Ochi Hidenori, Onohara Yuko, Toshishige Masaaki, Tokuyama Takehito, Matsumura Hiroya, Kawazoe Hiroshi, Tomomori Shunsuke, Sairaku Akinori, Watanabe Yoshikazu, Ikenaga Hiroki, Motoda Chikaaki, Suenari Kazuyoshi, Hayashida Yasufumi, Miki Daiki, Oda Nozomu, Kishimoto Shinji, Oda Noboru, Yoshida Yukihiko, Tashiro Satoshi, Chayama Kazuaki, Kihara Yasu |
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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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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
Journal of the American Heart Association 2016 5 (7): . Veltmann Christian, Barajas-Martinez Hector, Wolpert Christian, Borggrefe Martin, Schimpf Rainer, Pfeiffer Ryan, Cáceres Gabriel, Burashnikov Elena, Antzelevitch Charles, Hu D |
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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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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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Contribution of Cardiac Sodium Channel ?-Subunit Variants to Brugada Syndrome.
Circulation journal : official journal of the Japanese Circulation Society 2015 Jul . Peeters Uschi, Scornik Fabiana, Riuró Helena, Pérez Guillermo, Komurcu-Bayrak Evrim, Van Malderen Sophie, Pappaert Gudrun, Tarradas Anna, Pagans Sara, Daneels Dorien, Breckpot Karine, Brugada Pedro, Bonduelle Maryse, Brugada Ramon, Van Dooren Son |
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Genetics of Brugada syndrome.
Journal of human genetics 2015 Jul . Watanabe Hiroshi, Minamino Toh |
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Physical and Psychological Consequences of Left Cardiac Sympathetic Denervation for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation. Arrhythmia and electrophysiology 2015 Jul . Waddell-Smith Kathryn E, Ertresvaag Kjetil N, Li Jian, Chaudhuri Krish, Crawford Jackie R, Hamill James K, Haydock David, Skinner Jonathan R, |
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The global distribution of the p.R1193Q polymorphism in the SCN5A gene.
Legal medicine (Tokyo, Japan) 2015 Jul . Matsusue Aya, Yuasa Isao, Umetsu Kazuo, Nakayashiki Nori, Dewa Koji, Nishimukai Hiroaki, Kashiwagi Masayuki, Hara Kenji, Waters Brian, Takayama Mio, Ikematsu Natsuki, Kubo Shin-Ic |
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An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
Genetic testing and molecular biomarkers 2015 Jun 19 (6): 288-94. Nikulina Svetlana Y, Chernova Anna A, Shulman Vladimir A, Maksimov Vladimir N, Gavrilyuk Oksana A, Tretyakova Svetlana S, Marilovceva Olga |
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Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2015 Jun . Jagodzi?ska Michalina, Szperl Ma?gorzata, Poni?ska Joanna, Kosiec Agnieszka, Gajda Robert, Kukla Piotr, Biernacka El?bieta Katarzy |
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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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Purkinje-related ventricular fibrillation associated with a homozygous H558R polymorphism in the sodium channel SCN5A gene.
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 Jun . Reithmann Christopher, Beckmann Britt-Maria, Kääb Stef |
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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Cardiovascular research 2015 Jun 106 (3): 520-9. Behr Elijah R, Savio-Galimberti Eleonora, Barc Julien, Holst Anders G, Petropoulou Evmorfia, Prins Bram P, Jabbari Javad, Torchio Margherita, Berthet Myriam, Mizusawa Yuka, Yang Tao, Nannenberg Eline A, Dagradi Federica, Weeke Peter, Bastiaenan Rachel, Ackerman Michael J, Haunso Stig, Leenhardt Antoine, Kääb Stefan, Probst Vincent, Redon Richard, Sharma Sanjay, Wilde Arthur, Tfelt-Hansen Jacob, Schwartz Peter, Roden Dan M, Bezzina Connie R, Olesen Morten, Darbar Dawood, Guicheney Pascale, Crotti Lia, , Jamshidi Yal |
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SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
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Atlas of the clinical genetics of human dilated cardiomyopathy.
European heart journal 2015 May 36 (18): 1123-35a. Haas Jan, Frese Karen S, Peil Barbara, Kloos Wanda, Keller Andreas, Nietsch Rouven, Feng Zhu, Müller Sabine, Kayvanpour Elham, Vogel Britta, Sedaghat-Hamedani Farbod, Lim Wei-Keat, Zhao Xiaohong, Fradkin Dmitriy, Köhler Doreen, Fischer Simon, Franke Jennifer, Marquart Sabine, Barb Ioana, Li Daniel Tian, Amr Ali, Ehlermann Philipp, Mereles Derliz, Weis Tanja, Hassel Sarah, Kremer Andreas, King Vanessa, Wirsz Emil, Isnard Richard, Komajda Michel, Serio Alessandra, Grasso Maurizia, Syrris Petros, Wicks Eleanor, Plagnol Vincent, Lopes Luis, Gadgaard Tenna, Eiskjær Hans, Jørgensen Mads, Garcia-Giustiniani Diego, Ortiz-Genga Martin, Crespo-Leiro Maria G, Deprez Rondal H Lekanne Dit, Christiaans Imke, van Rijsingen Ingrid A, Wilde Arthur A, Waldenstrom Anders, Bolognesi Martino, Bellazzi Riccardo, Mörner Stellan, Bermejo Justo Lorenzo, Monserrat Lorenzo, Villard Eric, Mogensen Jens, Pinto Yigal M, Charron Philippe, Elliott Perry, Arbustini Eloisa, Katus Hugo A, Meder Benjam |
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Significant Association Between CAV1 Variant rs3807989 on 7p31 and Atrial Fibrillation in a Chinese Han Population.
Journal of the American Heart Association 2015 May 4 (5): . Chen Shanshan, Wang Chuchu, Wang Xiaojing, Xu Chengqi, Wu Manman, Wang Pengxia, Tu Xin, Wang Qing |
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Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Human molecular genetics 2015 May 24 (10): 2757-63. Le Scouarnec Solena, Karakachoff Matilde, Gourraud Jean-Baptiste, Lindenbaum Pierre, Bonnaud Stéphanie, Portero Vincent, Duboscq-Bidot Laëtitia, Daumy Xavier, Simonet Floriane, Teusan Raluca, Baron Estelle, Violleau Jade, Persyn Elodie, Bellanger Lise, Barc Julien, Chatel Stéphanie, Martins Raphaël, Mabo Philippe, Sacher Frédéric, Haïssaguerre Michel, Kyndt Florence, Schmitt Sébastien, Bézieau Stéphane, Le Marec Hervé, Dina Christian, Schott Jean-Jacques, Probst Vincent, Redon Richa |
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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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Novel SCN10A variants associated with Brugada 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 . Fukuyama Megumi, Ohno Seiko, Makiyama Takeru, Horie Mino |
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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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A Common Polymorphism of the Human Cardiac Sodium Channel Alpha Subunit (SCN5A) Gene Is Associated with Sudden Cardiac Death in Chronic Ischemic Heart Disease.
PloS one 2015 10 (7): e0132137. Marcsa Boglárka, Dénes Réka, Vörös Krisztina, Rácz Gergely, Sasvári-Székely Mária, Rónai Zsolt, Tör? Klára, Keszler Gerge |
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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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Brugada syndrome risk loci seem protective against atrial fibrillation.
European journal of human genetics : EJHG 2014 Dec 22 (12): 1357-61. Andreasen Laura, Nielsen Jonas B, Darkner Stine, Christophersen Ingrid E, Jabbari Javad, Refsgaard Lena, Thiis Jens J, Sajadieh Ahmad, Tveit Arnljot, Haunsø Stig, Svendsen Jesper H, Schmitt Nicole, Olesen Morten |
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A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans.
Journal of cardiovascular electrophysiology 2014 Nov 25 (11): 1150-7. Ilkhanoff Leonard, Arking Dan E, Lemaitre Rozenn N, Alonso Alvaro, Chen Lin Y, Durda Peter, Hesselson Stephanie E, Kerr Kathleen F, Magnani Jared W, Marcus Gregory M, Schnabel Renate B, Smith J Gustav, Soliman Elsayed Z, Reiner Alexander P, Sotoodehnia Nona, |
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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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SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction.
Molecular medicine reports 2014 Oct 10 (4): 2039-44. Boehringer Tim, Bugert Peter, Borggrefe Martin, Elmas El |
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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
Circulation. Cardiovascular genetics 2014 Jun 7 (3): 365-73. Magnani Jared W, Brody Jennifer A, Prins Bram P, Arking Dan E, Lin Honghuang, Yin Xiaoyan, Liu Ching-Ti, Morrison Alanna C, Zhang Feng, Spector Tim D, Alonso Alvaro, Bis Joshua C, Heckbert Susan R, Lumley Thomas, Sitlani Colleen M, Cupples L Adrienne, Lubitz Steven A, Soliman Elsayed Z, Pulit Sara L, Newton-Cheh Christopher, O'Donnell Christopher J, Ellinor Patrick T, Benjamin Emelia J, Muzny Donna M, Gibbs Richard A, Santibanez Jireh, Taylor Herman A, Rotter Jerome I, Lange Leslie A, Psaty Bruce M, Jackson Rebecca, Rich Stephen S, Boerwinkle Eric, Jamshidi Yalda, Sotoodehnia Nona, , , |
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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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Gene-environment interaction between SCN5A-1103Y and hypokalemia influences QT interval prolongation in African Americans: the Jackson Heart Study.
American heart journal 2014 Jan 167 (1): 116-122.e1. Akylbekova Ermeg L, Payne John P, Newton-Cheh Christopher, May Warren L, Fox Ervin R, Wilson James G, Sarpong Daniel F, Taylor Herman A, Maher Joseph |
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[Clinical polymorphisms and approaches of arrhythmias treatment in a family with ?KPQ1505-1507 deletion in SCN5A gene].
Vestnik Rossi?sko? akademii meditsinskikh nauk / Rossi?skaia akademiia meditsinskikh nauk 2014 (5-6): 52-9. Saber S, Houshmand M, Eftekhharzadeh M, Samiei Nasab, Fazelifar A F, Haghjoo M, Zakliaz'minskaia E V, Gavrilenko A |
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H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients.
Genetics and molecular research : GMR 2014 13 (3): 6569-76. Jiang S, Li F L, Dong Q, Liu H W, Fang C F, Shu C, Cheng H, Cui J, Ma H X, Chen D Q, Li |
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High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
Circulation journal : official journal of the Japanese Circulation Society 2014 78 (8): 1974-9. Takahashi Kazuhiro, Shimizu Wataru, Miyake Akira, Nabeshima Taisuke, Nakayashiro Mami, Ganaha Hitos |
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High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
Clinical genetics 2013 Nov 84 (5): 489-95. Risgaard B, Jabbari R, Refsgaard L, Holst A G, Haunsø S, Sadjadieh A, Winkel B G, Olesen M S, Tfelt-Hansen |
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Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome.
The American journal of cardiology 2013 Nov 112 (9): 1384-9. Maury Philippe, Rollin Anne, Sacher Frédéric, Gourraud Jean-Baptiste, Raczka Franck, Pasquié Jean-Luc, Duparc Alexandre, Mondoly Pierre, Cardin Christelle, Delay Marc, Derval Nicolas, Chatel Stéphanie, Bongard Vanina, Sadron Marie, Denis Arnaud, Davy Jean-Marc, Hocini Mélèze, Jaïs Pierre, Jesel Laurence, Haïssaguerre Michel, Probst Vince |
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Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.
Basic research in cardiology 2013 Nov 108 (6): 387. Fedele Francesco, Mancone Massimo, Chilian William M, Severino Paolo, Canali Emanuele, Logan Suzanna, De Marchis Maria Laura, Volterrani Maurizio, Palmirotta Raffaele, Guadagni Fiorel |
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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Nature genetics 2013 Sep 45 (9): 1044-9. Bezzina Connie R, Barc Julien, Mizusawa Yuka, Remme Carol Ann, Gourraud Jean-Baptiste, Simonet Floriane, Verkerk Arie O, Schwartz Peter J, Crotti Lia, Dagradi Federica, Guicheney Pascale, Fressart Véronique, Leenhardt Antoine, Antzelevitch Charles, Bartkowiak Susan, Borggrefe Martin, Schimpf Rainer, Schulze-Bahr Eric, Zumhagen Sven, Behr Elijah R, Bastiaenen Rachel, Tfelt-Hansen Jacob, Olesen Morten Salling, Kääb Stefan, Beckmann Britt M, Weeke Peter, Watanabe Hiroshi, Endo Naoto, Minamino Tohru, Horie Minoru, Ohno Seiko, Hasegawa Kanae, Makita Naomasa, Nogami Akihiko, Shimizu Wataru, Aiba Takeshi, Froguel Philippe, Balkau Beverley, Lantieri Olivier, Torchio Margherita, Wiese Cornelia, Weber David, Wolswinkel Rianne, Coronel Ruben, Boukens Bas J, Bézieau Stéphane, Charpentier Eric, Chatel Stéphanie, Despres Aurore, Gros Françoise, Kyndt Florence, Lecointe Simon, Lindenbaum Pierre, Portero Vincent, Violleau Jade, Gessler Manfred, Tan Hanno L, Roden Dan M, Christoffels Vincent M, Le Marec Hervé, Wilde Arthur A, Probst Vincent, Schott Jean-Jacques, Dina Christian, Redon Richa |
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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
European journal of human genetics : EJHG 2013 Sep 21 (9): 911-7. Sommariva Elena, Pappone Carlo, Martinelli Boneschi Filippo, Di Resta Chiara, Rosaria Carbone Maria, Salvi Erika, Vergara Pasquale, Sala Simone, Cusi Daniele, Ferrari Maurizio, Benedetti Sa |
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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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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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SCN5A promoter haplotype affects the therapeutic range for serum flecainide concentration in Asian patients.
Pharmacogenetics and genomics 2013 Jul 23 (7): 349-54. Doki Kosuke, Homma Masato, Kuga Keisuke, Aonuma Kazutaka, Kohda Yukin |
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A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
Clinical genetics 2013 Jun 83 (6): 530-8. García-Molina E, Lacunza J, Ruiz-Espejo F, Sabater M, García-Alberola A, Gimeno J R, Cañizares F, García A, Martínez P, Valdés M, Tovar |
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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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Sudden cardiac arrest associated with use of a non-cardiac drug that reduces cardiac excitability: evidence from bench, bedside, and community.
European heart journal 2013 May 34 (20): 1506-16. Bardai Abdennasser, Amin Ahmad S, Blom Marieke T, Bezzina Connie R, Berdowski Jocelyn, Langendijk Pim N J, Beekman Leander, Klemens Christine A, Souverein Patrick C, Koster Rudolph W, de Boer Anthonius, Tan Hanno |
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Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
Circulation 2013 Apr 127 (13): 1377-85. Ritchie Marylyn D, Denny Joshua C, Zuvich Rebecca L, Crawford Dana C, Schildcrout Jonathan S, Bastarache Lisa, Ramirez Andrea H, Mosley Jonathan D, Pulley Jill M, Basford Melissa A, Bradford Yuki, Rasmussen Luke V, Pathak Jyotishman, Chute Christopher G, Kullo Iftikhar J, McCarty Catherine A, Chisholm Rex L, Kho Abel N, Carlson Christopher S, Larson Eric B, Jarvik Gail P, Sotoodehnia Nona, , Manolio Teri A, Li Rongling, Masys Daniel R, Haines Jonathan L, Roden Dan |
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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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Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
European journal of heart failure 2013 Jan . van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP |
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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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A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?
Disease markers 2013 35 (5): 531-5. Shen Cheng, Xu Lei, Yang Zhiyin, Zou Yunzeng, Hu Kai, Fan Zheng, Ge Junbo, Sun Aij |
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L-type calcium channel mutations in Japanese patients with inherited arrhythmias.
Circulation journal : official journal of the Japanese Circulation Society 2013 77 (7): 1799-806. Fukuyama Megumi, Ohno Seiko, Wang Qi, Kimura Hiromi, Makiyama Takeru, Itoh Hideki, Ito Makoto, Horie Mino |
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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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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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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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Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
Circulation 2012 Sep 126 (12): 1469-77. Baruteau Alban-Elouen, Behaghel Albin, Fouchard Swanny, Mabo Philippe, Schott Jean-Jacques, Dina Christian, Chatel Stéphanie, Villain Elisabeth, Thambo Jean-Benoit, Marçon François, Gournay Véronique, Rouault Francis, Chantepie Alain, Guillaumont Sophie, Godart François, Martins Raphaël P, Delasalle Béatrice, Bonnet Caroline, Fraisse Alain, Schleich Jean-Marc, Lusson Jean-René, Dulac Yves, Daubert Jean-Claude, Le Marec Hervé, Probst Vince |
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High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.
Circulation. Cardiovascular genetics 2012 Aug 5 (4): 450-9. Olesen Morten S, Yuan Lei, Liang Bo, Holst Anders G, Nielsen Nikolaj, Nielsen Jonas B, Hedley Paula L, Christiansen Michael, Olesen Søren-Peter, Haunsø Stig, Schmitt Nicole, Jespersen Thomas, Svendsen Jesper |
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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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Common genetic variants associated with sudden cardiac death: the FinSCDgen study.
PloS one 2012 7 (7): e41675. Lahtinen Annukka M, Noseworthy Peter A, Havulinna Aki S, Jula Antti, Karhunen Pekka J, Kettunen Johannes, Perola Markus, Kontula Kimmo, Newton-Cheh Christopher, Salomaa Veik |
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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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SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility.
PloS one 2012 7 (8): e42037. van Hoorn Frans, Campian Maria E, Spijkerboer Anje, Blom Marieke T, Planken R Nils, van Rossum Albert C, de Bakker Jacques M T, Wilde Arthur A M, Groenink Maarten, Tan Hanno |
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Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy.
Circulation. Cardiovascular genetics 2011 Dec 4 (6): 626-35. Shah Sonia, Nelson Christopher P, Gaunt Tom R, van der Harst Pim, Barnes Timothy, Braund Peter S, Lawlor Debbie A, Casas Juan-Pablo, Padmanabhan Sandosh, Drenos Fotios, Kivimaki Mika, Talmud Philippa J, Humphries Steve E, Whittaker John, Morris Richard W, Whincup Peter H, Dominiczak Anna, Munroe Patricia B, Johnson Toby, Goodall Alison H, Cambien Francois, Diemert Patrick, Hengstenberg Christian, Ouwehand Willem H, Felix Janine F, Glazer Nicole L, Tomaszewski Maciej, Burton Paul R, Tobin Martin D, van Veldhuisen Dirk J, de Boer Rudolf A, Navis Gerjan, van Gilst Wiek H, Mayosi Bongani M, Thompson John R, Kumari Meena, MacFarlane Peter W, Day Ian N M, Hingorani Aroon D, Samani Nilesh |
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Polymorphism H558R in the Human Cardiac Sodium Channel SCN5A Gene is Associated with Atrial Fibrillation.
The Journal of international medical research 2011 39 (5): 5. Chen L, Zhang W, Fang C, Jiang S, Shu C, Cheng H, Li F, Li H |
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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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SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
Journal of the American College of Cardiology 2011 May 57 (21): 2160-8. McNair William P, Sinagra Gianfranco, Taylor Matthew R G, Di Lenarda Andrea, Ferguson Debra A, Salcedo Ernesto E, Slavov Dobromir, Zhu Xiao, Caldwell John H, Mestroni Luisa, |
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SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study.
Circulation. Cardiovascular genetics 2011 Apr 4 (2): 139-44. Jeff Janina M, Brown-Gentry Kristin, Buxbaum Sarah G, Sarpong Daniel F, Taylor Herman A, George Alfred L, Roden Dan M, Crawford Dana |
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The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.
Circulation. Cardiovascular genetics 2011 Apr 4 (2): 163-8. Sun Albert Y, Koontz Jason I, Shah Svati H, Piccini Jonathan P, Nilsson Kent R, Craig Damian, Haynes Carol, Gregory Simon G, Hranitzky Patrick M, Pitt Geoffrey |
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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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Large-scale candidate gene analysis of HDL particle features.
PloS one 2011 6 (1): e14529. Kaess Bernhard M, Tomaszewski Maciej, Braund Peter S, Stark Klaus, Rafelt Suzanne, Fischer Marcus, Hardwick Robert, Nelson Christopher P, Debiec Radoslaw, Huber Fritz, Kremer Werner, Kalbitzer Hans Robert, Rose Lynda M, Chasman Daniel I, Hopewell Jemma, Clarke Robert, Burton Paul R, Tobin Martin D, Hengstenberg Christian, Samani Nilesh |
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SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with Brugada syndrome.
Circulation journal : official journal of the Japanese Circulation Society 2010 Nov 74 (12): 2572-8. Nishii Nobuhiro, Ogawa Masahiro, Morita Hiroshi, Nakamura Kazufumi, Banba Kimikazu, Miura Daiji, Kumagai Naoko, Matsunaga Akira, Kawamura Hiroshi, Urakawa Shigemi, Miyaji Kohei, Nagai Masahiro, Satoh Katsumasa, Nakagawa Koji, Tanaka Masamichi, Hiramatsu Shigeki, Tada Takeshi, Murakami Masato, Nagase Satoshi, Kohno Kunihisa, Kusano Kengo Fukushima, Saku Keijiro, Ohe Tohru, Ito Hiros |
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The P-selectin gene polymorphism Val168Met: a novel risk marker for the occurrence of primary ventricular fibrillation during acute myocardial infarction.
Journal of cardiovascular electrophysiology 2010 Nov 21 (11): 1260-5. Elmas Elif, Bugert Peter, Popp Tatjana, Lang Siegfried, Weiss Christel, Behnes Michael, Borggrefe Martin, Kälsch Thorst |
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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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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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The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome.
Journal of the American College of Cardiology 2010 May 55 (18): 1955-61. Viskin Sami, Postema Pieter G, Bhuiyan Zahurul A, Rosso Raphael, Kalman Jonathan M, Vohra Jitendra K, Guevara-Valdivia Milton E, Marquez Manlio F, Kogan Evgeni, Belhassen Bernard, Glikson Michael, Strasberg Boris, Antzelevitch Charles, Wilde Arthur A |
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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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