Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Death and 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 |
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 |
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 |
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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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