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The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: pinto ym. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, Yaou RB, Duboc D, Rossenbacker T, Heidbüchel H, de Visser M, Crijns HJ, Pinto YM. van Berlo JH, et al. Among authors: pinto ym. J Mol Med (Berl). 2005 Jan;83(1):79-83. doi: 10.1007/s00109-004-0589-1. Epub 2004 Nov 13. J Mol Med (Berl). 2005. PMID: 15551023
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJ, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CH, Hofstra RM, Pinto YM. van Tintelen JP, et al. Among authors: pinto ym. J Am Coll Cardiol. 2007 Jun 26;49(25):2430-9. doi: 10.1016/j.jacc.2007.02.063. Epub 2007 Jun 11. J Am Coll Cardiol. 2007. PMID: 17599607 Free article.
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.
Christiaans I, Birnie E, van Langen IM, van Spaendonck-Zwarts KY, van Tintelen JP, van den Berg MP, Atsma DE, Helderman-van den Enden AT, Pinto YM, Hermans-van Ast JF, Bonsel GJ, Wilde AA. Christiaans I, et al. Among authors: pinto ym. Eur Heart J. 2010 Apr;31(7):842-8. doi: 10.1093/eurheartj/ehp539. Epub 2009 Dec 16. Eur Heart J. 2010. PMID: 20019025
Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study.
van Rijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Pilotto A, Pasotti M, Jenkins S, Rowland C, Aslam U, Wilde AA, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Pinto YM. van Rijsingen IA, et al. Among authors: pinto ym. J Am Coll Cardiol. 2012 Jan 31;59(5):493-500. doi: 10.1016/j.jacc.2011.08.078. J Am Coll Cardiol. 2012. PMID: 22281253 Free article.
278 results