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MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW. Stoffels M, et al. Among authors: cuppen e. Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505238
Cloning and expression of new microRNAs from zebrafish.
Kloosterman WP, Steiner FA, Berezikov E, de Bruijn E, van de Belt J, Verheul M, Cuppen E, Plasterk RH. Kloosterman WP, et al. Among authors: cuppen e. Nucleic Acids Res. 2006 May 12;34(9):2558-69. doi: 10.1093/nar/gkl278. Print 2006. Nucleic Acids Res. 2006. PMID: 16698962 Free PMC article.
Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations.
Harakalova M, Nijman IJ, Medic J, Mokry M, Renkens I, Blankensteijn JD, Kloosterman W, Baas AF, Cuppen E. Harakalova M, et al. Among authors: cuppen e. J Cardiovasc Transl Res. 2011 Jun;4(3):271-80. doi: 10.1007/s12265-011-9263-5. Epub 2011 Mar 1. J Cardiovasc Transl Res. 2011. PMID: 21360310 Free PMC article.
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.
Kloosterman WP, Hoogstraat M, Paling O, Tavakoli-Yaraki M, Renkens I, Vermaat JS, van Roosmalen MJ, van Lieshout S, Nijman IJ, Roessingh W, van 't Slot R, van de Belt J, Guryev V, Koudijs M, Voest E, Cuppen E. Kloosterman WP, et al. Among authors: cuppen e. Genome Biol. 2011 Oct 19;12(10):R103. doi: 10.1186/gb-2011-12-10-r103. Genome Biol. 2011. PMID: 22014273 Free PMC article.
Discovery of variants unmasked by hemizygous deletions.
Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Among authors: cuppen e. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.
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: cuppen e. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: cuppen e. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
311 results