Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 156 Records) |
| Query Trace: Brugada Syndrome[original query] |
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| A high number of 'natural' mitochondrial DNA polymorphisms in a symptomatic Brugada syndrome type 1 patient. Journal of genetics 2020 9 99 . Polidori Emanuela, Stocchi Laura, Potenza Domenico, Cucchiarini Luigi, Stocchi Vilberto, Potenza Luc |
| Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands. Circulation. Genomic and precision medicine 2021 8 14 (5): e003222. Milman Anat, Behr Elijah R, Gray Belinda, Johnson David C, Andorin Antoine, Hochstadt Aviram, Gourraud Jean-Baptiste, Maeda Shingo, Takahashi Yoshihide, Jm Juang Jimmy, Kim Sung-Hwan, Kamakura Tsukasa, Aiba Takeshi, Postema Pieter G, Mizusawa Yuka, Denjoy Isabelle, Giustetto Carla, Conte Giulio, Huang Zhengrong, Sarquella-Brugada Georgia, Mazzanti Andrea, Jespersen Camilla H, Arbelo Elena, Brugada Ramon, Calo Leonardo, Corrado Domenico, Casado-Arroyo Ruben, Allocca Giuseppe, Takagi Masahiko, Delise Pietro, Brugada Josep, Tfelt-Hansen Jacob, Priori Silvia G, Veltmann Christian, Yan Gan-Xin, Brugada Pedro, Gaita Fiorenzo, Leenhardt Antoine, Wilde Arthur A M, Kusano Kengo F, Nam Gi-Byoung, Hirao Kenzo, Probst Vincent, Belhassen Berna |
| A 59-Year-Old Woman with Familial Brugada Syndrome and the c.664C>T Variant of the Sodium Voltage-Gated Channel Alpha Subunit 5 (SCN5A) Gene, Accompanied by Congenital Absence of the Right Coronary Artery, Patent Foramen Ovale, and Ischemic Stroke. The American journal of case reports 2021 8 22 e931535. Katsaras Dimitrios, Sanjeev Kumar Bangalore Thimmappa, Patel Billal, Chalil Shajil, Abozguia Khal |
| Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome. European heart journal 2021 Jul . Ishikawa Taisuke, Kimoto Hiroki, Mishima Hiroyuki, Yamagata Kenichiro, Ogata Soshiro, Aizawa Yoshiyasu, Hayashi Kenshi, Morita Hiroshi, Nakajima Tadashi, Nakano Yukiko, Nagase Satoshi, Murakoshi Nobuyuki, Kowase Shinya, Ohkubo Kimie, Aiba Takeshi, Morimoto Shimpei, Ohno Seiko, Kamakura Shiro, Nogami Akihiko, Takagi Masahiko, Karakachoff Matilde, Dina Christian, Schott Jean-Jacques, Yoshiura Koh-Ichiro, Horie Minoru, Shimizu Wataru, Nishimura Kunihiro, Kusano Kengo, Makita Naoma |
| Common variants in SCN10A gene associated with Brugada syndrome. Human molecular genetics 2021 7 31 (2): 157-165. Huang Yan, Chen Xiao-Meng, Barajas-Martinez Hector, Jiang Hong, Antzelevitch Charles, Hu D |
| Evaluation of subcutaneous implantable cardioverter-defibrillator performance in patients with ion channelopathies from the EFFORTLESS cohort and comparison with a meta-analysis of transvenous ICD outcomes. Heart rhythm O2 2021 6 1 (5): 326-335. Lambiase Pier D, Eckardt Lars, Theuns Dominic A, Betts Timothy R, Kyriacou Andreas L, Duffy Elizabeth, Knops Reino |
| 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 |
| Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel. Frontiers in pharmacology 2021 11 12 756415. Korkosh Vyacheslav S, Zaytseva Anastasia K, Kostareva Anna A, Zhorov Boris |
| Brugada Syndrome: New Insights From Cardiac Magnetic Resonance and Electroanatomical Imaging. Circulation. Arrhythmia and electrophysiology 2021 10 14 (11): e010004. Pappone Carlo, Santinelli Vincenzo, Mecarocci Valerio, Tondi Lara, Ciconte Giuseppe, Manguso Francesco, Sturla Francesco, Vicedomini Gabriele, Micaglio Emanuele, Anastasia Luigi, Pica Silvia, Camporeale Antonia, Lombardi Massi |
| 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 |
| Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Na 1.5-subunit mutations. Journal of biomedical research 2021 10 35 (5): 395-407. Zhu Yue, Wang Linlin, Cui Chang, Qin Huiyuan, Chen Hongwu, Chen Shaojie, Lin Yongping, Cheng Hongyi, Jiang Xiaohong, Chen Minglo |
| Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics. Circulation. Genomic and precision medicine 2022 9 15 (5): e003675. Nafissi Navid A, Abdulrahim Jawan W, Kwee Lydia Coulter, Coniglio Amanda C, Kraus William E, Piccini Jonathan P, Daubert James P, Sun Albert Y, Shah Svati |
| 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 |
| Plasma MicroRNAs as noninvasive diagnostic biomarkers in patients with Brugada syndrome. PloS one 2022 5 17 (5): e0261390. Ikeuchi Yoshihiro, Ochi Hidenori, Motoda Chikaaki, Tokuyama Takehito, Okubo Yousaku, Okamura Sho, Miyauchi Syunsuke, Miyamoto Shogo, Uotani Yukimi, Onohara Yuko, Nakashima Mika, Akiyama Rie, Tahara Hidetoshi, Chayama Kazuaki, Kihara Yasuki, Nakano Yuki |
| Author Correction: 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 4 54 (5): 735. 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 |
| Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome. JACC. Clinical electrophysiology 2022 3 8 (3): 297-305. Suzuki Keisuke, Sonoda Keiko, Aoki Hisaaki, Nakamura Yuko, Watanabe Seiichi, Yoshida Yoko, Hoshino Kenji, Ozawa Junichi, Imamura Tomohiko, Aiba Takeshi, Kato Koichi, Makiyama Takeru, Kusano Kengo, Horie Minoru, Ohno Sei |
| Dominant negative effects of SCN5A missense variants. Genetics in medicine : official journal of the American College of Medical Genetics 2022 3 24 (6): 1238-1248. O'Neill Matthew J, Muhammad Ayesha, Li Bian, Wada Yuko, Hall Lynn, Solus Joseph F, Short Laura, Roden Dan M, Glazer Andrew |
| Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome. PloS one 2022 3 17 (3): e0263469. Martínez-Campelo Laura, Cruz Raquel, Blanco-Verea Alejandro, Moscoso Isabel, Ramos-Luis Eva, Lage Ricardo, Álvarez-Barredo María, Sabater-Molina María, Peñafiel-Verdú Pablo, Jiménez-Jáimez Juan, Rodríguez-Mañero Moisés, Brion Mar |
| SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping. Heart rhythm 2022 2 19 (6): 945-951. Pannone Luigi, Monaco Cinzia, Sorgente Antonio, Vergara Pasquale, Gauthey Anaïs, Calburean Paul-Adrian, Bisignani Antonio, Paparella Gaetano, Ramak Robbert, Overeinder Ingrid, Bala Gezim, Almorad Alexandre, Ströker Erwin, Pappaert Gudrun, Sieira Juan, Brugada Pedro, Van Dooren Sonia, de Ravel Thomy, La Meir Mark, Chierchia Gian Battista, de Asmundis Car |
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 |
| 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 |
| Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing. Heart rhythm 2022 1 19 (5): 798-806. Novelli Valeria, Memmi Mirella, Malovini Alberto, Mazzanti Andrea, Liu Nian, Yanfei Ruan, Bongianino Rossana, Denegri Marco, Monteforte Nicola, Bloise Raffaella, Morini Massimo, Napolitano Car |
| Clinical and Genetic Features of Korean Inherited Arrhythmia Probands. Korean circulation journal 2023 9 . Joo Hee Jeong, Suk-Kyu Oh, Yun Gi Kim, Yun Young Choi, Hyoung Seok Lee, Jaemin Shim, Yae Min Park, Jun-Hyung Kim, Yong-Seog Oh, Nam-Ho Kim, Hui-Nam Pak, Young Keun On, Hyung Wook Park, Gyo-Seung Hwang, Dae-Kyeong Kim, Young-Ah Park, Hyoung-Seob Park, Yongkeun Cho, Seil Oh, Jong-Il Choi, Young-Hoon K |
| 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 |
| Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG Imaging. JACC. Clinical electrophysiology 2023 8 . Antonio Bisignani, Luigi Pannone, Alvise Del Monte, Ivan Eltsov, Ida Anna Cappello, Juan Sieira, Cinzia Monaco, Gezim Bala, Sahar Mouram, Domenico Giovanni Della Rocca, Erwin Ströker, Ingrid Overeinder, Alexandre Almorad, Gudrun Pappaert, Anaïs Gauthey, Thomy de Ravel, Sonia Van Dooren, Antonio Sorgente, Mark La Meir, Andrea Sarkozy, Pedro Brugada, Gian-Battista Chierchia, Carlo de Asmund |
| Type of syncope and outcome in Brugada syndrome: A systematic review and meta-analysis. Journal of arrhythmia 2023 4 39 (2): 111-120. Rattanawong Pattara, Kewcharoen Jakrin, Yinadsawaphan Thanaboon, Fatunde Olubadewa A, Kanitsoraphan Chanavuth, Vutthikraivit Wasawat, Prasitlumkum Narut, Chung Eugene H, Shen Win-Kua |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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