Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 44 Records) |
| Query Trace: Disease and KCNH2[original query] |
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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 |
| 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 |
| 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 |
| Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. The Canadian journal of cardiology 2013 Sep 29 (9): 1104-9. Andreasen Charlotte, Refsgaard Lena, Nielsen Jonas B, Sajadieh Ahmad, Winkel Bo G, Tfelt-Hansen Jacob, Haunsø Stig, Holst Anders G, Svendsen Jesper H, Olesen Morten |
| 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 |
| Sports Participation in Genotype Positive Children With Long QT Syndrome. JACC. Clinical electrophysiology 0 1 (1-2): 62-70. Aziz Peter F, Sweeten Tammy, Vogel Ramon L, Bonney William J, Henderson Jacqueline, Patel Akash R, Shah Maully |
| Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients. International heart journal 2015 56 (4): 450-3. Chang Ya-Sian, Yang Yi-Wen, Lin Yen-Nien, Lin Kuo-Hung, Chang Kuan-Cheng, Chang Jan-Gow |
| hERG potassium channel blockade by the HCN channel inhibitor bradycardic agent ivabradine. Journal of the American Heart Association 2015 Apr 4 (4): . Melgari Dario, Brack Kieran E, Zhang Chuan, Zhang Yihong, El Harchi Aziza, Mitcheson John S, Dempsey Christopher E, Ng G André, Hancox Jules |
| 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 |
| Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Annals of neurology 2015 Dec . Bagnall Richard D, Crompton Douglas E, Petrovski Slavé, Lam Lien, Cutmore Carina, Garry Sarah I, Sadleir Lynette G, Dibbens Leanne M, Cairns Anita, Kivity Sara, Afawi Zaid, Regan Brigid M, Duflou Johan, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christoph |
| 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 |
| Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine 2016 Feb . Neubauer Jacqueline, Haas Cordula, Bartsch Christine, Domingo-Medeiros Argelia, Berger Wolfga |
| 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 |
| 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 |
| Detection of Variants in Patients with Idiopathic Ventricular Fibrillation by Whole-exome Sequencing. Annals of clinical and laboratory science 2018 8 48 (4): 427-434. Chang Ya-Sian, Lee Chien-Chin, Huang Hsi-Yuan, Lin Kuo-Hung, Chen Jan-Yow, Chang Kuan-Cheng, Chang Jan-Gow |
| Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients. Pediatric cardiology 2018 Aug . Alharbi Khalid M, Al-Mazroea Abdelhadi H, Abdallah Atiyeh M, Almohammadi Yousef, Carlus S Justin, Basit Sulm |
| 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 |
| A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation. The American journal of cardiology 2018 12 123 (5): 787-793. Mechakra Asma, Footz Tim, Walter Michael, Aránega Amelia, Hernández-Torres Francisco, Morel Elodie, Millat Gilles, Yang Yi-Qing, Chahine Mohamed, Chevalier Philippe, Christé Georg |
| Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. Journal of clinical medicine 2019 7 8 (7): . Campuzano Oscar, Fernandez-Falgueras Anna, Lemus Ximena, Sarquella-Brugada Georgia, Cesar Sergi, Coll Monica, Mates Jesus, Arbelo Elena, Jordà Paloma, Perez-Serra Alexandra, Del Olmo Bernat, Ferrer-Costa Carles, Iglesias Anna, Fiol Victoria, Puigmulé Marta, Lopez Laura, Pico Ferran, Brugada Josep, Brugada Ram |
| 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 |
| 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 |
| Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 86-93. Singer Emma S, Ross Samantha B, Skinner Jon R, Weintraub Robert G, Ingles Jodie, Semsarian Christopher, Bagnall Richard |
| Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases. Cardiovascular research 2020 1 116 (13): 2116-2130. Hayashi Kenshi, Teramoto Ryota, Nomura Akihiro, Asano Yoshihiro, Beerens Manu, Kurata Yasutaka, Kobayashi Isao, Fujino Noboru, Furusho Hiroshi, Sakata Kenji, Onoue Kenji, Chiang David Y, Kiviniemi Tuomas O, Buys Eva, Sips Patrick, Burch Micah L, Zhao Yanbin, Kelly Amy E, Namura Masanobu, Kita Yoshihito, Tsuchiya Taketsugu, Kaku Bunji, Oe Kotaro, Takeda Yuko, Konno Tetsuo, Inoue Masaru, Fujita Takashi, Kato Takeshi, Funada Akira, Tada Hayato, Hodatsu Akihiko, Nakanishi Chiaki, Sakamoto Yuichiro, Tsuda Toyonobu, Nagata Yoji, Tanaka Yoshihiro, Okada Hirofumi, Usuda Keisuke, Cui Shihe, Saito Yoshihiko, MacRae Calum A, Takashima Seiji, Yamagishi Masakazu, Kawashiri Masa-Aki, Takamura Masayu |
| The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2. Frontiers in physiology 2022 1 12 755642. van den Brink Lettine, Brandão Karina O, Yiangou Loukia, Blanch-Asensio Albert, Mol Mervyn P H, Mummery Christine L, Verkerk Arie O, Davis Richard |
| 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 |
| Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms. Journal of affective disorders 2023 11 . Zimu Chen, Zhi Xu, Chenjie Gao, Lei Chen, Tingting Tan, Wenhao Jiang, Bingwei Chen, Yonggui Yuan, Zhijun Zha |
| Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening. Biochemistry. Biokhimiia 2024 4 89 (3): 543-552. Denis Abramochkin, Bowen Li, Han Zhang, Ekaterina Kravchuk, Tatiana Nesterova, Grigory Glukhov, Anna Shestak, Elena Zaklyazminskaya, Olga S Sokolo |
| Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients. JACC. Clinical electrophysiology 2024 10 . Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwar |
| Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias. Gene 2024 1 899 148132. Sen Li, Zhang Zhang, Yining Ding, Tingting Yu, Zongshi Qin, Shuzhen G |
- Page last reviewed:Feb 1, 2024
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