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Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
Purevjav E, Varela J, Morgado M, Kearney DL, Li H, Taylor MD, Arimura T, Moncman CL, McKenna W, Murphy RT, Labeit S, Vatta M, Bowles NE, Kimura A, Boriek AM, Towbin JA. Purevjav E, et al. Among authors: li h. J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502. doi: 10.1016/j.jacc.2010.05.045. J Am Coll Cardiol. 2010. PMID: 20951326 Free PMC article.
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, DeFreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H, Danieli GA, Calkins H, Marcus F, Towbin JA. Yang Z, et al. Among authors: li h. Circ Res. 2006 Sep 15;99(6):646-55. doi: 10.1161/01.RES.0000241482.19382.c6. Epub 2006 Aug 17. Circ Res. 2006. PMID: 16917092
Genetics and cardiac arrhythmias.
Towbin JA, Vatta M, Li H, Bowles NE. Towbin JA, et al. Among authors: li h. Adv Pediatr. 2002;49:87-129. Adv Pediatr. 2002. PMID: 12214781 Review.
Novel mutations in domain I of SCN5A cause Brugada syndrome.
Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA. Vatta M, et al. Among authors: li h. Mol Genet Metab. 2002 Apr;75(4):317-24. doi: 10.1016/S1096-7192(02)00006-9. Mol Genet Metab. 2002. PMID: 12051963
121,067 results
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