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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Almomani R, et al. Among authors: van stuijvenberg m, van spaendonck zwarts ky, van slegtenhorst ma, van ijcken wf, van der smagt jj, van der zwaag pa, van tintelen jp, van de laar im. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093. J Am Coll Cardiol. 2016. PMID: 26846950 Free article.
Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function.
van Dijk SJ, Paalberends ER, Najafi A, Michels M, Sadayappan S, Carrier L, Boontje NM, Kuster DW, van Slegtenhorst M, Dooijes D, dos Remedios C, ten Cate FJ, Stienen GJ, van der Velden J. van Dijk SJ, et al. Circ Heart Fail. 2012 Jan;5(1):36-46. doi: 10.1161/CIRCHEARTFAILURE.111.963702. Epub 2011 Dec 16. Circ Heart Fail. 2012. PMID: 22178992 Free article.
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.
Sequeira V, Wijnker PJ, Nijenkamp LL, Kuster DW, Najafi A, Witjas-Paalberends ER, Regan JA, Boontje N, Ten Cate FJ, Germans T, Carrier L, Sadayappan S, van Slegtenhorst MA, Zaremba R, Foster DB, Murphy AM, Poggesi C, Dos Remedios C, Stienen GJ, Ho CY, Michels M, van der Velden J. Sequeira V, et al. Among authors: van slegtenhorst ma, van der velden j. Circ Res. 2013 May 24;112(11):1491-505. doi: 10.1161/CIRCRESAHA.111.300436. Epub 2013 Mar 18. Circ Res. 2013. PMID: 23508784 Free PMC article.
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
Witjas-Paalberends ER, Piroddi N, Stam K, van Dijk SJ, Oliviera VS, Ferrara C, Scellini B, Hazebroek M, ten Cate FJ, van Slegtenhorst M, dos Remedios C, Niessen HW, Tesi C, Stienen GJ, Heymans S, Michels M, Poggesi C, van der Velden J. Witjas-Paalberends ER, et al. Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13. Cardiovasc Res. 2013. PMID: 23674513
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Weiss MM, et al. Among authors: van slegtenhorst ma, van der zwaag b, van der stoep n, van den wijngaard a. Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Hum Mutat. 2013. PMID: 23776008 Review.
Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: patient outcomes, rate of appropriate and inappropriate interventions, and complications.
Vriesendorp PA, Schinkel AF, Van Cleemput J, Willems R, Jordaens LJ, Theuns DA, van Slegtenhorst MA, de Ravel TJ, ten Cate FJ, Michels M. Vriesendorp PA, et al. Among authors: van slegtenhorst ma, van cleemput j. Am Heart J. 2013 Sep;166(3):496-502. doi: 10.1016/j.ahj.2013.06.009. Epub 2013 Jul 16. Am Heart J. 2013. PMID: 24016499
Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.
Witjas-Paalberends ER, Güçlü A, Germans T, Knaapen P, Harms HJ, Vermeer AM, Christiaans I, Wilde AA, Dos Remedios C, Lammertsma AA, van Rossum AC, Stienen GJ, van Slegtenhorst M, Schinkel AF, Michels M, Ho CY, Poggesi C, van der Velden J. Witjas-Paalberends ER, et al. Cardiovasc Res. 2014 Jul 15;103(2):248-57. doi: 10.1093/cvr/cvu127. Epub 2014 May 16. Cardiovasc Res. 2014. PMID: 24835277
125 results