Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 95 Records) |
| Query Trace: Long QT Syndrome and Scn5a[original query] |
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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 |
| Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death. Heart rhythm 2017 8 14 (12): 1873-1881. Ter Bekke Rachel M A, Isaacs Aaron, Barysenka Andrei, Hoos Marije B, Jongbloed Jan D H, Hoorntje Jan C A, Patelski Alfons S M, Helderman-van den Enden Apollonia T J M, van den Wijngaard Arthur, Stoll Monika, Volders Paul G |
| Influence of genetic modifiers on sudden cardiac death cases. International journal of legal medicine 2017 12 132 (2): 379-385. Jenewein Tina, Neumann Thomas, Erkapic Damir, Kuniss Malte, Verhoff Marcel A, Thiel Gerhard, Kauferstein Sil |
| 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 |
| Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. Annals of laboratory medicine 2017 10 38 (1): 54-58. Seo Soo Hyun, Kim So Yeon, Cho Sung Im, Park Hyunwoong, Lee Seungjun, Choi Jong Moon, Kim Man Jin, Lee Jee Soo, Ahn Kyung Jin, Song Mi Kyoung, Bae Eun Jung, Park Sung Sup, Seong Moon W |
| Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families. Journal of applied genetics 2018 9 59 (4): 463-469. Szperl Ma?gorzata, Kozicka Urszula, Kosiec Agnieszka, Kukla Piotr, Roszczynko Marta, Biernacka El?bieta Katarzy |
| Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea. Journal of Korean medical science 2018 8 33 (32): e200. Son Min-Jeong, Kim Min-Kyoung, Yang Kyung-Moo, Choi Byung-Ha, Lee Bong Woo, Yoo Seong |
| SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European heart journal 2018 Jul . Baruteau Alban-Elouen, Kyndt Florence, Behr Elijah R, Vink Arja S, Lachaud Matthias, Joong Anna, Schott Jean-Jacques, Horie Minoru, Denjoy Isabelle, Crotti Lia, Shimizu Wataru, Bos Johan M, Stephenson Elizabeth A, Wong Leonie, Abrams Dominic J, Davis Andrew M, Winbo Annika, Dubin Anne M, Sanatani Shubhayan, Liberman Leonardo, Kaski Juan Pablo, Rudic Boris, Kwok Sit Yee, Rieubland Claudine, Tfelt-Hansen Jacob, Van Hare George F, Guyomarc'h-Delasalle Béatrice, Blom Nico A, Wijeyeratne Yanushi D, Gourraud Jean-Baptiste, Le Marec Hervé, Ozawa Junichi, Fressart Véronique, Lupoglazoff Jean-Marc, Dagradi Federica, Spazzolini Carla, Aiba Takeshi, Tester David J, Zahavich Laura A, Beauséjour-Ladouceur Virginie, Jadhav Mangesh, Skinner Jonathan R, Franciosi Sonia, Krahn Andrew D, Abdelsayed Mena, Ruben Peter C, Yung Tak-Cheung, Ackerman Michael J, Wilde Arthur A, Schwartz Peter J, Probst Vince |
| Genotype and clinical characteristics of congenital long QT syndrome in Thailand. Indian pacing and electrophysiology journal 2018 7 18 (5): 165-171. Saprungruang Ankavipar, Khongphatthanayothin Apichai, Mauleekoonphairoj John, Wandee Pharawee, Kanjanauthai Supaluck, Bhuiyan Zahurul A, Wilde Arthur A M, Poovorawan Yo |
| 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 |
| Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion. Circulation 2018 5 138 (12): 1184-1194. Sheikh Nabeel, Papadakis Michael, Wilson Mathew, Malhotra Aneil, Adamuz Carmen, Homfray Tessa, Monserrat Lorenzo, Behr Elijah R, Sharma Sanj |
| Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. Journal of the American College of Cardiology 2018 4 71 (15): 1663-1671. Mazzanti Andrea, Maragna Riccardo, Vacanti Gaetano, Monteforte Nicola, Bloise Raffaella, Marino Maira, Braghieri Lorenzo, Gambelli Patrick, Memmi Mirella, Pagan Eleonora, Morini Massimo, Malovini Alberto, Ortiz Martin, Sacilotto Luciana, Bellazzi Riccardo, Monserrat Lorenzo, Napolitano Carlo, Bagnardi Vincenzo, Priori Silvia |
| Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. Hong Kong medical journal = Xianggang yi xue za zhi 2018 3 24 (4): 340-349. Mak C M, Chen S Pl, Mok N S, Siu W K, Lee H Hc, Ching C K, Tsui P T, Fong N C, Yuen Y P, Poon W T, Law C Y, Chong Y K, Chan Y W, Yung T C, Fan K Yy, Lam C |
| Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study. American journal of obstetrics and gynecology 2019 9 222 (3): 263.e1-263.e11. Cuneo Bettina F, Kaizer Alexander M, Clur Sally Ann, Swan Heikki, Herberg Ulrike, Winbo Annika, Rydberg Annika, Haugaa Kristina, Etheridge Susan, Ackerman Michael J, Dagradi Federica, Killen Stacy A S, Wacker-Gussmann Annette, Benson D Woodrow, Wilde A A M, Pan Zhaoxing, Lam Aimee, Spazzolini Carla, Horigome Hitoshi, Schwartz Peter J, |
| 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 |
| 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 |
| Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 47-58. Walsh Roddy, Lahrouchi Najim, Tadros Rafik, Kyndt Florence, Glinge Charlotte, Postema Pieter G, Amin Ahmad S, Nannenberg Eline A, Ware James S, Whiffin Nicola, Mazzarotto Francesco, Škori?-Milosavljevi? Doris, Krijger Christian, Arbelo Elena, Babuty Dominique, Barajas-Martinez Hector, Beckmann Britt M, Bézieau Stéphane, Bos J Martijn, Breckpot Jeroen, Campuzano Oscar, Castelletti Silvia, Celen Candan, Clauss Sebastian, Corveleyn Anniek, Crotti Lia, Dagradi Federica, de Asmundis Carlo, Denjoy Isabelle, Dittmann Sven, Ellinor Patrick T, Ortuño Cristina Gil, Giustetto Carla, Gourraud Jean-Baptiste, Hazeki Daisuke, Horie Minoru, Ishikawa Taisuke, Itoh Hideki, Kaneko Yoshiaki, Kanters Jørgen K, Kimoto Hiroki, Kotta Maria-Christina, Krapels Ingrid P C, Kurabayashi Masahiko, Lazarte Julieta, Leenhardt Antoine, Loeys Bart L, Lundin Catarina, Makiyama Takeru, Mansourati Jacques, Martins Raphaël P, Mazzanti Andrea, Mörner Stellan, Napolitano Carlo, Ohkubo Kimie, Papadakis Michael, Rudic Boris, Molina Maria Sabater, Sacher Frédéric, Sahin Hatice, Sarquella-Brugada Georgia, Sebastiano Regina, Sharma Sanjay, Sheppard Mary N, Shimamoto Keiko, Shoemaker M Benjamin, Stallmeyer Birgit, Steinfurt Johannes, Tanaka Yuji, Tester David J, Usuda Keisuke, van der Zwaag Paul A, Van Dooren Sonia, Van Laer Lut, Winbo Annika, Winkel Bo G, Yamagata Kenichiro, Zumhagen Sven, Volders Paul G A, Lubitz Steven A, Antzelevitch Charles, Platonov Pyotr G, Odening Katja E, Roden Dan M, Roberts Jason D, Skinner Jonathan R, Tfelt-Hansen Jacob, van den Berg Maarten P, Olesen Morten S, Lambiase Pier D, Borggrefe Martin, Hayashi Kenshi, Rydberg Annika, Nakajima Tadashi, Yoshinaga Masao, Saenen Johan B, Kääb Stefan, Brugada Pedro, Robyns Tomas, Giachino Daniela F, Ackerman Michael J, Brugada Ramon, Brugada Josep, Gimeno Juan R, Hasdemir Can, Guicheney Pascale, Priori Silvia G, Schulze-Bahr Eric, Makita Naomasa, Schwartz Peter J, Shimizu Wataru, Aiba Takeshi, Schott Jean-Jacques, Redon Richard, Ohno Seiko, Probst Vincent, , Behr Elijah R, Barc Julien, Bezzina Connie |
| An NGS-based genotyping in LQTS; minor genes are no longer minor. Journal of human genetics 2020 Jul . Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Mino |
| Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. NPJ genomic medicine 2021 6 6 (1): 51. Lacaze Paul, Sebra Robert, Riaz Moeen, Ingles Jodie, Tiller Jane, Thompson Bryony A, James Paul A, Fatkin Diane, Semsarian Christopher, Reid Christopher M, Tonkin Andrew M, Winship Ingrid, Schadt Eric, McNeil John |
| Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. Journal of cardiovascular electrophysiology 2021 12 33 (2): 262-273. Akgun-Dogan Ozlem, A?ao?lu Nihat B, K Demirkol Yasemin, Do?anay Levent, Ergül Yakup, Karacan Mehm |
| Induced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes. Biology 2021 10 10 (10): . Hayama Emiko, Furutani Yoshiyuki, Kawaguchi Nanako, Seki Akiko, Nagashima Yoji, Okita Keisuke, Takeuchi Daiji, Matsuoka Rumiko, Inai Kei, Hagiwara Nobuhisa, Nakanishi Tosh |
| KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort. Life (Basel, Switzerland) 2022 4 12 (4): . Lorca Rebeca, Junco-Vicente Alejandro, Pérez-Pérez Alicia, Pascual Isaac, Persia-Paulino Yvan Rafael, González-Urbistondo Francisco, Cuesta-Llavona Elías, Fernández-Barrio Bárbara C, Morís César, Rubín José Manuel, Coto Eliecer, Gómez Juan, Reguero José Julián Rodrígu |
| Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart rhythm 2022 2 19 (6): 998-1007. Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael |
| Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. 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 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
| Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel. Orphanet journal of rare diseases 2022 10 17 (1): 394. Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu |
| Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias. Circulation 2022 1 145 (4): 299-308. Wada Yuko, Yang Tao, Shaffer Christian M, Daniel Laura L, Glazer Andrew M, Davogustto Giovanni E, Lowery Brandon D, Farber-Eger Eric H, Wells Quinn S, Roden Dan |
| Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland. Journal of the American Heart Association 2023 7 12 (14): e029845. Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B Davidsson, Rosa B Thorolfsdottir, Vinicius Tragante, Gudny A Arnadottir, Brynjar O Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F Gudbjartsson, Hilma Holm, David O Arnar, Kari Stefanss |
| Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Circulation. Genomic and precision medicine 2023 4 16 (2): e003726. Wei Zhou, Dan Ye, David J Tester, Sahej Bains, John R Giudicessi, Carla M Haglund-Turnquist, Kate M Orland, Craig T January, Lee L Eckhardt, Kathleen R Maginot, Michael J Ackerm |
| Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death. Heart rhythm 2023 2 . Isaacs Aaron, Barysenka Andrei, Ter Bekke Rachel M A, Helderman-van den Enden Apollonia T J M, van den Wijngaard Arthur, Volders Paul G A, Stoll Moni |
| Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China. BMC genomics 2023 2 24 (1): 57. Wei Si-Jie, Du Jin-Liang, Wang Yue-Bing, Qu Peng-Fei, Ma Lin, Sun Zhong-Chun, Tang Xue, Liu Kai, Xi Yan-Mei, Nie Sheng-Jie, Jia Peng-Lin, Long Wu, Qu Yong-Qiang, Li Yu-Hua, Lei Pu-Pi |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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