Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 73 Records) |
| Query Trace: Arrhythmia and SCN5A[original query] |
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| 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 |
| 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 |
| SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers. International journal of cardiology 2018 5 266 128-132. Amin Ahmad S, Reckman Yolan J, Arbelo Elena, Spanjaart Anne M, Postema Pieter G, Tadros Rafik, Tanck Michael W, Van den Berg Maarten P, Wilde Arthur A M, Tan Hanno |
| Copy number variations of SCN5A in Brugada syndrome. Heart rhythm 2018 3 15 (8): 1179-1188. Sonoda Keiko, Ohno Seiko, Ozawa Junichi, Hayano Mamoru, Hattori Tetsuhisa, Kobori Atsushi, Yahata Mitsuhiko, Aburadani Isao, Watanabe Seiichi, Matsumoto Yuichi, Makiyama Takeru, Horie Mino |
| 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 |
| Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype. Frontiers in genetics 2019 6 10 547. Micaglio Emanuele, Monasky Michelle M, Ciconte Giuseppe, Vicedomini Gabriele, Conti Manuel, Mecarocci Valerio, Giannelli Luigi, Giordano Federica, Pollina Alberto, Saviano Massimo, Pozzi Paolo R, Di Resta Chiara, Benedetti Sara, Ferrari Maurizio, Santinelli Vincenzo, Pappone Car |
| 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 |
| Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Frontiers in cell and developmental biology 2019 11 7 261. El-Battrawy Ibrahim, Müller Jonas, Zhao Zhihan, Cyganek Lukas, Zhong Rujia, Zhang Feng, Kleinsorge Mandy, Lan Huan, Li Xin, Xu Qiang, Huang Mengying, Liao Zhenxing, Moscu-Gregor Alexander, Albers Sebastian, Dinkel Hendrik, Lang Siegfried, Diecke Sebastian, Zimmermann Wolfram-Hubertus, Utikal Jochen, Wieland Thomas, Borggrefe Martin, Zhou Xiaobo, Akin Ibrah |
| 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 |
| Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes. Stem cells international 2020 9 2020 8842398. Barajas-Martinez Hector, Smith Maya, Hu Dan, Goodrow Robert J, Puleo Colleen, Hasdemir Can, Antzelevitch Charles, Pfeiffer Ryan, Treat Jacqueline A, Cordeiro Jonathan |
| "Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest. International journal of cardiology 2020 9 324 96-101. Isbister Julia C, Nowak Natalie, Butters Alexandra, Yeates Laura, Gray Belinda, Sy Raymond W, Ingles Jodie, Bagnall Richard D, Semsarian Christoph |
| Single nucleotide polymorphisms of SCN5A and SCN10A genes increase the risk of ventricular arrhythmias during myocardial infarction. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2020 Apr . Foddha Hajer, Bouzidi Nadia, Foddha Abdelhak, Chouchene Saoussen, Touhami Rahma, Leban Nadia, Maatoug Mohamed Faouzi, Gamra Habib, Ferchichi Salima, Chibani Jemni Ben, Khelil Amel H |
| A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions. Human mutation 2020 1 41 (4): 850-859. Doisne Nicolas, Waldmann Victor, Redheuil Alban, Waintraub Xavier, Fressart Véronique, Ader Flavie, Fossé Lucie, Hidden-Lucet Françoise, Gandjbakhch Estelle, Neyroud Nathal |
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Circulation. Genomic and precision medicine 2021 Jul . Choi Seung Hoan, Jurgens Sean J, Haggerty Christopher M, Hall Amelia W, Halford Jennifer L, Morrill Valerie N, Weng Lu-Chen, Lagerman Braxton, Mirshahi Tooraj, Pettinger Mary, Guo Xiuqing, Lin Henry J, Alonso Alvaro, Soliman Elsayed Z, Kornej Jelena, Lin Honghuang, Moscati Arden, Nadkarni Girish N, Brody Jennifer A, Wiggins Kerri L, Cade Brian E, Lee Jiwon, Austin-Tse Christina, Blackwell Tom, Chaffin Mark D, Lee Christina J-Y, Rehm Heidi L, Roselli Carolina, , Redline Susan, Mitchell Braxton D, Sotoodehnia Nona, Psaty Bruce M, Heckbert Susan R, Loos Ruth J F, Vasan Ramachandran S, Benjamin Emelia J, Correa Adolfo, Boerwinkle Eric, Arking Dan E, Rotter Jerome I, Rich Stephen S, Whitsel Eric A, Perez Marco, Kooperberg Charles, Fornwalt Brandon K, Lunetta Kathryn L, Ellinor Patrick T, Lubitz Steven A, |
| Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. International journal of molecular sciences 2021 7 22 (13): . Treat Jacqueline A, Pfeiffer Ryan, Barajas-Martinez Hector, Goodrow Robert J, Bot Corina, Haedo Rodolfo J, Knox Ronald, Cordeiro Jonathan |
| Frequency of Irritable Bowel Syndrome in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern. The American journal of cardiology 2021 5 151 51-56. Sarica Anil S, Bor Serhat, Orman Mehmet N, Barajas-Martinez Hector, Juang Jyh-Ming Jimmy, Antzelevitch Charles, Hasdemir C |
| Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients. Functional & integrative genomics 2021 2 21 (3-4): 331-340. Ghaffari Taraneh, Mirhosseini Motlagh Naser, Daraei Abdolreza, Tafrihi Majid, Saravi Mehrdad, Sabour Davo |
| 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 |
| Pregnancy in women with Brugada syndrome: Is there an increased arrhythmia risk? A case-series report. Journal of cardiovascular electrophysiology 2021 10 33 (1): 123-127. van der Crabben Saskia N, Kowsoleea Astra I E, Clur Sally-Ann B, Wilde Arthur A |
| Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome. Frontiers in pharmacology 2022 9 13 984299. Zaklyazminskaya Elena, Shestak Anna, Podolyak Dmitry, Komoliatova Vera, Makarov Leonid, Novitskaya Anna, Revishvili Amir |
| Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort. Circulation. Genomic and precision medicine 2022 2 15 (2): e003536. Tomar Swati, Klinzing David C, Chen Ching Kit, Gan Louis Hanqiang, Moscarello Tia, Reuter Chloe, Ashley Euan A, Foo Rog |
| Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Nature genetics 2022 Feb . Barc Julien, Tadros Rafik, Glinge Charlotte, Chiang David Y, Jouni Mariam, Simonet Floriane, Jurgens Sean J, Baudic Manon, Nicastro Michele, Potet Franck, Offerhaus Joost A, Walsh Roddy, Choi Seung Hoan, Verkerk Arie O, Mizusawa Yuka, Anys Soraya, Minois Damien, Arnaud Marine, Duchateau Josselin, Wijeyeratne Yanushi D, Muir Alison, Papadakis Michael, Castelletti Silvia, Torchio Margherita, Ortuño Cristina Gil, Lacunza Javier, Giachino Daniela F, Cerrato Natascia, Martins Raphaël P, Campuzano Oscar, Van Dooren Sonia, Thollet Aurélie, Kyndt Florence, Mazzanti Andrea, Clémenty Nicolas, Bisson Arnaud, Corveleyn Anniek, Stallmeyer Birgit, Dittmann Sven, Saenen Johan, Noël Antoine, Honarbakhsh Shohreh, Rudic Boris, Marzak Halim, Rowe Matthew K, Federspiel Claire, Le Page Sophie, Placide Leslie, Milhem Antoine, Barajas-Martinez Hector, Beckmann Britt-Maria, Krapels Ingrid P, Steinfurt Johannes, Winkel Bo Gregers, Jabbari Reza, Shoemaker Moore B, Boukens Bas J, Škori?-Milosavljevi? Doris, Bikker Hennie, Manevy Federico, Lichtner Peter, Ribasés Marta, Meitinger Thomas, Müller-Nurasyid Martina, , Veldink Jan H, van den Berg Leonard H, Van Damme Philip, Cusi Daniele, Lanzani Chiara, Rigade Sidwell, Charpentier Eric, Baron Estelle, Bonnaud Stéphanie, Lecointe Simon, Donnart Audrey, Le Marec Hervé, Chatel Stéphanie, Karakachoff Matilde, Bézieau Stéphane, London Barry, Tfelt-Hansen Jacob, Roden Dan, Odening Katja E, Cerrone Marina, Chinitz Larry A, Volders Paul G, van de Berg Maarten P, Laurent Gabriel, Faivre Laurence, Antzelevitch Charles, Kääb Stefan, Arnaout Alain Al, Dupuis Jean-Marc, Pasquie Jean-Luc, Billon Olivier, Roberts Jason D, Jesel Laurence, Borggrefe Martin, Lambiase Pier D, Mansourati Jacques, Loeys Bart, Leenhardt Antoine, Guicheney Pascale, Maury Philippe, Schulze-Bahr Eric, Robyns Tomas, Breckpot Jeroen, Babuty Dominique, Priori Silvia G, Napolitano Carlo, , de Asmundis Carlo, Brugada Pedro, Brugada Ramon, Arbelo Elena, Brugada Josep, Mabo Philippe, Behar Nathalie, Giustetto Carla, Molina Maria Sabater, Gimeno Juan R, Hasdemir Can, Schwartz Peter J, Crotti Lia, McKeown Pascal P, Sharma Sanjay, Behr Elijah R, Haissaguerre Michel, Sacher Frédéric, Rooryck Caroline, Tan Hanno L, Remme Carol A, Postema Pieter G, Delmar Mario, Ellinor Patrick T, Lubitz Steven A, Gourraud Jean-Baptiste, Tanck Michael W, George Alfred L, MacRae Calum A, Burridge Paul W, Dina Christian, Probst Vincent, Wilde Arthur A, Schott Jean-Jacques, Redon Richard, 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 |
| Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program. Journal of community genetics 2022 10 13 (6): 629-639. Siskind Tamar, Williams Nori, Sebastin Monisha, Marion Robert, McDonald Thomas V, Walsh Christine, Sampson Barbara, Tang Yingying, Clark Bradley |
| 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 |
| In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome. Molecular genetics & genomic medicine 2023 8 e2263. Hung Manh Pham, Duy Phuong Nguyen, Thanh Dat Ta, Thi Phuong Le, Phong Hai Phan, Hoai An Trinh, Tuan Viet Tran, Thi Lan Anh Luong, Ha Minh Nguyen, The-Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van-Khanh Tr |
| The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome. Frontiers in medicine 2024 7 10 1159586. Alexander M Greiner, Haider Mehdi, Chloe Cevan, Rebecca Gutmann, Barry Lond |
| Requirement of ? subunit for the reduced voltage-gated Na current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A. The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology 2024 6 28 (4): 313-322. Na Kyeong Park, Seong Woo Choi, Soon-Jung Park, JooHan Woo, Hyun Jong Kim, Woo Kyung Kim, Sung-Hwan Moon, Hun-Jun Park, Sung Joon K |
| 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 |
- Page last reviewed:Feb 1, 2024
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