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Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: asselbergs fw. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy.
Gho JM, van Es R, Stathonikos N, Harakalova M, te Rijdt WP, Suurmeijer AJ, van der Heijden JF, de Jonge N, Chamuleau SA, de Weger RA, Asselbergs FW, Vink A. Gho JM, et al. Among authors: asselbergs fw. PLoS One. 2014 Apr 14;9(4):e94820. doi: 10.1371/journal.pone.0094820. eCollection 2014. PLoS One. 2014. PMID: 24732829 Free PMC article.
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.
Karakikes I, Stillitano F, Nonnenmacher M, Tzimas C, Sanoudou D, Termglinchan V, Kong CW, Rushing S, Hansen J, Ceholski D, Kolokathis F, Kremastinos D, Katoulis A, Ren L, Cohen N, Gho JMIH, Tsiapras D, Vink A, Wu JC, Asselbergs FW, Li RA, Hulot JS, Kranias EG, Hajjar RJ. Karakikes I, et al. Among authors: asselbergs fw. Nat Commun. 2015 Apr 29;6:6955. doi: 10.1038/ncomms7955. Nat Commun. 2015. PMID: 25923014 Free PMC article.
Health-related quality of life and outcome in atherosclerosis - Does sex matter?
Gohar A, Gijsberts CM, Haitjema S, Pasterkamp G, de Kleijn DP, Asselbergs FW, Voskuil M, de Borst GJ, Hoefer IE, den Ruijter HM. Gohar A, et al. Among authors: asselbergs fw. Int J Cardiol. 2016 Jun 1;212:303-6. doi: 10.1016/j.ijcard.2016.03.149. Epub 2016 Mar 24. Int J Cardiol. 2016. PMID: 27057946 No abstract available.
629 results