Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Brugada Syndrome and KCNH2[original query] |
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| Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. Journal of human genetics 2005 50 (9): 490-6. Lai Ling-Ping, Su Yi-Ning, Hsieh Fon-Jou, Chiang Fu-Tien, Juang Jyh-Ming, Liu Yen-Bin, Ho Yi-Lwun, Chen Wen-Jone, Yeh San-Jou, Wang Chun-Chieh, Ko Yu-Lin, Wu Tsu-Juey, Ueng Kwo-Chang, Lei Meng-Huan, Tsao Hsuan-Ming, Chen Shih-Ann, Lin Tin-Kwang, Wu Mei-Hwan, Lo Huey-Ming, Huang Shoei K Stephen, Lin Jiunn-L |
| Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome. Frontiers of medicine in China 2007 Jul 1 (3): 312-5. Du Rong, Tian Li, Yuan Guohui, Li Jin, Ren Faxin, Gui Le, Li Wei, Zhang Shouyan, Kang Cailian, Yang Jung |
| 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 |
| 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 |
| 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 |
| 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 |
| Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population. Journal of cardiovascular development and disease 2022 11 9 (11): . Wang Lin-Lin, Chen Yang-Hui, Sun Yang, Huang Man, Wei Hao-Ran, Liu Hao, Xu Ke, Song Xiu-Li, Chen Peng, Tan Lun, Huang Jin, Li Zong-Zhe, Li Rui, Yu Ting, Ma Fei, Ding Hu, Wang Yan, Wang Dao-Wen, Wang Hong, Zhao Chun-X |
| 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 |
| 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 |
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