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Page 1
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ, Lindsey PJ, Kamps MAF, Krapels IP, Ramaekers FCS, Brunner HG, van den Wijngaard A, Broers JLV. van Tienen FHJ, et al. Among authors: van den wijngaard a. Eur J Hum Genet. 2019 Mar;27(3):389-399. doi: 10.1038/s41431-018-0294-0. Epub 2018 Nov 12. Eur J Hum Genet. 2019. PMID: 30420677 Free PMC article.
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A. Verstraeten VL, et al. Among authors: van steensel ma, van den wijngaard a. Hum Mol Genet. 2006 Aug 15;15(16):2509-22. doi: 10.1093/hmg/ddl172. Epub 2006 Jul 6. Hum Mol Genet. 2006. PMID: 16825282
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Verstraeten VL, Caputo S, van Steensel MA, Duband-Goulet I, Zinn-Justin S, Kamps M, Kuijpers HJ, Ostlund C, Worman HJ, Briedé JJ, Le Dour C, Marcelis CL, van Geel M, Steijlen PM, van den Wijngaard A, Ramaekers FC, Broers JL. Verstraeten VL, et al. Among authors: van steensel ma, van geel m, van den wijngaard a. J Cell Mol Med. 2009 May;13(5):959-71. doi: 10.1111/j.1582-4934.2009.00690.x. Epub 2009 Feb 11. J Cell Mol Med. 2009. PMID: 19220582 Free PMC article.
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
De Vos WH, Houben F, Kamps M, Malhas A, Verheyen F, Cox J, Manders EM, Verstraeten VL, van Steensel MA, Marcelis CL, van den Wijngaard A, Vaux DJ, Ramaekers FC, Broers JL. De Vos WH, et al. Among authors: van steensel ma, van den wijngaard a. Hum Mol Genet. 2011 Nov 1;20(21):4175-86. doi: 10.1093/hmg/ddr344. Epub 2011 Aug 10. Hum Mol Genet. 2011. PMID: 21831885
Cytoplasmic localization of PML particles in laminopathies.
Houben F, De Vos WH, Krapels IP, Coorens M, Kierkels GJ, Kamps MA, Verstraeten VL, Marcelis CL, van den Wijngaard A, Ramaekers FC, Broers JL. Houben F, et al. Among authors: van den wijngaard a. Histochem Cell Biol. 2013 Jan;139(1):119-34. doi: 10.1007/s00418-012-1005-5. Epub 2012 Aug 25. Histochem Cell Biol. 2013. PMID: 22918509
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E. Vrijenhoek T, et al. Among authors: van den hout mc, van eyndhoven w, van workum w, van tienhoven m, van ijcken wf, van der zwaag b, van hove s, van slegtenhorst m, den dunnen j, van der stoep n, van den wijngaard a. Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Eur J Hum Genet. 2015. PMID: 25626705 Free PMC article.
Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.
Hazebroek MR, Moors S, Dennert R, van den Wijngaard A, Krapels I, Hoos M, Verdonschot J, Merken JJ, de Vries B, Wolffs PF, Crijns HJ, Brunner-La Rocca HP, Heymans S. Hazebroek MR, et al. Among authors: van den wijngaard a. J Am Coll Cardiol. 2015 Sep 22;66(12):1313-23. doi: 10.1016/j.jacc.2015.07.023. J Am Coll Cardiol. 2015. PMID: 26383716 Free article.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, Barrois YE, Janssen JW, Paulussen AD, Sels JW, Kuijpers SH, van Tintelen JP, van den Berg MP, Heesen WF, Garcia-Pavia P, Perrot A, Christiaans I, Salemink S, Marcelis CL, Smeets HJ, Brunner HG, Volders PG, van den Wijngaard A. Claes GR, et al. Among authors: van den berg mp, van tintelen jp, van den wijngaard a, van tienen fh. Eur Heart J. 2016 Jun 14;37(23):1815-22. doi: 10.1093/eurheartj/ehv522. Epub 2015 Oct 24. Eur Heart J. 2016. PMID: 26497160
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, van den Wijngaard A. Paulussen AD, et al. Among authors: van den wijngaard a, van tienen fh. Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406248 Free PMC article.
92 results