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Page 1
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.
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
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
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET, Bollen IA, Barge-Schaapveld DQ, van Tienen FH, Te Meerman GJ, Jansweijer JA, van Essen AJ, Volders PG, Constantinescu AA, van den Akker PC, van Spaendonck-Zwarts KY, Oldenburg RA, Marcelis CL, van der Smagt JJ, Hennekam EA, Vink A, Bootsma M, Aten E, Wilde AA, van den Wijngaard A, Broers JL, Jongbloed JD, van der Velden J, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: van essen aj, van spaendonck zwarts ky, van den berg mp, van den akker pc, van der smagt jj, van der velden j, van den wijngaard a, van tintelen jp, van tienen fh. Circ Cardiovasc Genet. 2017 Aug;10(4):e001631. doi: 10.1161/CIRCGENETICS.116.001631. Circ Cardiovasc Genet. 2017. PMID: 28790152
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.
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Stroeks SLVM, Lunde IG, Hellebrekers DMEI, Claes GRF, Wakimoto H, Gorham J, Krapels IPC, Vanhoutte EK, van den Wijngaard A, Henkens MTHM, Raafs AG, Sikking MA, Broers JLV, Nabben M, Jones EAV, Heymans SRB, Brunner HG, Verdonschot JAJ. Stroeks SLVM, et al. Among authors: van den wijngaard a. Circ Genom Precis Med. 2023 Apr;16(2):e003788. doi: 10.1161/CIRCGEN.122.003788. Epub 2023 Mar 27. Circ Genom Precis Med. 2023. PMID: 36971006
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Christiaans I, Birnie E, Bonsel GJ, Mannens MM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PG, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden AT, Houweling AC, de Boer K, van der Smagt JJ, Hauer RN, Marcelis CL, Timmermans J, van Langen IM, Wilde AA. Christiaans I, et al. Among authors: van den berg mp, van langen im, van der smagt jj, van tintelen jp, van den wijngaard a. Eur Heart J. 2011 May;32(9):1161-70. doi: 10.1093/eurheartj/ehr092. Epub 2011 Apr 1. Eur Heart J. 2011. PMID: 21459882
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
87 results