Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: TMEM43[original query] |
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Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. American journal of human genetics 2008 Apr 82 (4): 809-21. Merner Nancy D, Hodgkinson Kathy A, Haywood Annika F M, Connors Sean, French Vanessa M, Drenckhahn Jörg-Detlef, Kupprion Christine, Ramadanova Kalina, Thierfelder Ludwig, McKenna William, Gallagher Barry, Morris-Larkin Lynn, Bassett Anne S, Parfrey Patrick S, Young Terry-Ly |
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. Clinical genetics 2011 1 80 (3): 256-64. Christensen A H, Andersen C B, Tybjaerg-Hansen A, Haunso S, Svendsen J |
The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clinical genetics 2013 Apr 83 (4): 321-31. Hodgkinson K A, Connors S P, Merner N, Haywood A, Young T-L, McKenna W J, Gallagher B, Curtis F, Bassett A S, Parfrey P |
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. PloS one 2014 9 (6): e100560. Alcalde Mireia, Campuzano Oscar, Berne Paola, García-Pavía Pablo, Doltra Ada, Arbelo Elena, Sarquella-Brugada Georgia, Iglesias Anna, Alonso-Pulpon Luis, Brugada Josep, Brugada Ram |
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 |
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PloS one 2017 8 12 (8): e0181840. Fedida Joel, Fressart Veronique, Charron Philippe, Surget Elodie, Hery Tiphaine, Richard Pascale, Donal Erwan, Keren Boris, Duthoit Guillaume, Hidden-Lucet Françoise, Villard Eric, Gandjbakhch Estel |
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing. Clinical and translational gastroenterology 2019 10 10 (10): e00100. Toma Claudio, Díaz-Gay Marcos, Soares de Lima Yasmin, Arnau-Collell Coral, Franch-Expósito Sebastià, Muñoz Jenifer, Overs Bronwyn, Bonjoch Laia, Carballal Sabela, Ocaña Teresa, Cuatrecasas Miriam, Díaz de Bustamante Aránzazu, Castells Antoni, Bujanda Luis, Cubiella Joaquín, Balaguer Francesc, Rodríguez-Alcalde Daniel, Fullerton Janice M, Castellví-Bel Ser |
The Genetic Makeup of the Electrocardiogram.
Cell systems 2020 Sep 11 (3): 229-238.e5. Verweij Niek, Benjamins Jan-Walter, Morley Michael P, van de Vegte Yordi J, Teumer Alexander, Trenkwalder Teresa, Reinhard Wibke, Cappola Thomas P, van der Harst P |
Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy. Heart rhythm 2020 Feb . Paulin Frédéric L, Hodgkinson Kathleen A, MacLaughlan Sarah, Stuckless Susan N, Templeton Christina, Shah Suryakant, Bremner Heather, Roberts Jason D, Young Terry-Lynn, Parfrey Patrick S, Connors Sean |
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5. Heart rhythm 2020 2 17 (6): 945-954. Dominguez Fernando, Zorio Esther, Jimenez-Jaimez Juan, Salguero-Bodes Rafael, Zwart Robert, Gonzalez-Lopez Esther, Molina Pilar, Bermúdez-Jiménez Francisco, Delgado Juan F, Braza-Boïls Aitana, Bornstein Belen, Toquero Jorge, Segovia Javier, Van Tintelen J Peter, Lara-Pezzi Enrique, Garcia-Pavia Pab |
Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure. ESC heart failure 2021 9 8 (6): 5178-5191. Saito Tsunenori, Sato Naoko Saito, Mozawa Kosuke, Adachi Akiko, Sasaki Yoshihiro, Nakamura Kotoka, Oka Eiichiro, Otsuka Toshiaki, Kodani Eitaro, Asai Kuniya, Mizuno Kyoichi, Shimizu Wataru, Gottlieb Roberta |
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. Frontiers in cardiovascular medicine 2021 6 8 635141. Leone Maria Pia, Palumbo Pietro, Saenen Johan, Mastroianno Sandra, Castellana Stefano, Amico Cesare, Mazza Tommaso, Potenza Domenico Rosario, Petracca Antonio, Castori Marco, Carella Massimo, Di Stolfo Giusep |
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals.
Aging cell 2021 3 20 (3): e13323. Liu Xiaomin, Song Zijun, Li Yan, Yao Yao, Fang Mingyan, Bai Chen, An Peng, Chen Huashuai, Chen Zhihua, Tang Biyao, Shen Juan, Gao Xiaotong, Zhang Mingrong, Chen Pengyu, Zhang Tao, Jia Huijue, Liu Xiao, Hou Yong, Yang Huanming, Wang Jian, Wang Fudi, Xu Xun, Min Junxia, Nie Chao, Zeng |
Myocardial strain measured via two-dimensional speckle-tracking echocardiography in a family diagnosed with arrhythmogenic left ventricular cardiomyopathy. Cardiovascular ultrasound 2021 12 19 (1): 40. Ma Changsheng, Fan Jiali, Zhou Bingyuan, Zhao Caiming, Zhao Xin, Su Bo, Miao Yuzhu, Liao Yuping, Wang |
Transcriptome-wide association study identifies susceptibility genes for rheumatoid arthritis. Arthritis research & therapy 2021 Jan 23 (1): 38. Wu Cuiyan, Tan Sijian, Liu Li, Cheng Shiqiang, Li Peilin, Li Wenyu, Liu Huan, Zhang Feng'e, Wang Sen, Ning Yujie, Wen Yan, Zhang Fe |
Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy. Radiology. Cardiothoracic imaging 2024 1 5 (6): e230155. João Matos, Emmi Helle, Melanie Care, Yasbanoo Moayedi, Michael H Gollob, Paaladinesh Thavendiranathan, Danna Spears, Kate Hannem |
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- Page last updated:Mar 25, 2024
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