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Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Groeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D. Groeneweg JA, et al. Among authors: van der heijden jf, van mil am, van der smagt jj, van tintelen jp. Heart Rhythm. 2014 Nov;11(11):2010-7. doi: 10.1016/j.hrthm.2014.07.041. Epub 2014 Jul 31. Heart Rhythm. 2014. PMID: 25087486
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. van Tintelen JP, et al. Among authors: van der smagt j, van langen im, van gelder ic. Circulation. 2006 Apr 4;113(13):1650-8. doi: 10.1161/CIRCULATIONAHA.105.609719. Epub 2006 Mar 27. Circulation. 2006. PMID: 16567567
A family with Andersen-Tawil syndrome and dilated cardiomyopathy.
Schoonderwoerd BA, Wiesfeld AC, Wilde AA, van den Heuvel F, Van Tintelen JP, van den Berg MP, Van Veldhuisen DJ, Van Gelder IC. Schoonderwoerd BA, et al. Among authors: van den heuvel f, van den berg mp, van gelder ic, van tintelen jp, van veldhuisen dj. Heart Rhythm. 2006 Nov;3(11):1346-50. doi: 10.1016/j.hrthm.2006.07.021. Epub 2006 Jul 21. Heart Rhythm. 2006. PMID: 17074642 No abstract available.
243 results