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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: wijmenga c. 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
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.
Zhernakova A, Festen EM, Franke L, Trynka G, van Diemen CC, Monsuur AJ, Bevova M, Nijmeijer RM, van 't Slot R, Heijmans R, Boezen HM, van Heel DA, van Bodegraven AA, Stokkers PC, Wijmenga C, Crusius JB, Weersma RK. Zhernakova A, et al. Among authors: wijmenga c. Am J Hum Genet. 2008 May;82(5):1202-10. doi: 10.1016/j.ajhg.2008.03.016. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439550 Free PMC article.
Common and different genetic background for rheumatoid arthritis and coeliac disease.
Coenen MJ, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E, Boezen MH, Postma DS, Platteel M, Zanen P, Lammers JW, Groen HJ, Mali WP, Mulder CJ, Tack GJ, Verbeek WH, Wolters VM, Houwen RH, Mearin ML, van Heel DA, Radstake TR, van Riel PL, Wijmenga C, Barrera P, Zhernakova A. Coenen MJ, et al. Among authors: wijmenga c. Hum Mol Genet. 2009 Nov 1;18(21):4195-203. doi: 10.1093/hmg/ddp365. Epub 2009 Jul 31. Hum Mol Genet. 2009. PMID: 19648290
Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
Festen EA, Stokkers PC, van Diemen CC, van Bodegraven AA, Boezen HM, Crusius BJ, Hommes DW, van der Woude CJ, Balschun T, Verspaget HW, Schreiber S, de Jong DJ, Franke A, Dijkstra G, Wijmenga C, Weersma RK. Festen EA, et al. Among authors: wijmenga c. Am J Gastroenterol. 2010 Feb;105(2):395-402. doi: 10.1038/ajg.2009.576. Epub 2009 Oct 27. Am J Gastroenterol. 2010. PMID: 19861958
Human dectin-1 deficiency and mucocutaneous fungal infections.
Ferwerda B, Ferwerda G, Plantinga TS, Willment JA, van Spriel AB, Venselaar H, Elbers CC, Johnson MD, Cambi A, Huysamen C, Jacobs L, Jansen T, Verheijen K, Masthoff L, Morré SA, Vriend G, Williams DL, Perfect JR, Joosten LA, Wijmenga C, van der Meer JW, Adema GJ, Kullberg BJ, Brown GD, Netea MG. Ferwerda B, et al. Among authors: wijmenga c. N Engl J Med. 2009 Oct 29;361(18):1760-7. doi: 10.1056/NEJMoa0901053. N Engl J Med. 2009. PMID: 19864674 Free PMC article.
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
Fransen K, Visschedijk MC, van Sommeren S, Fu JY, Franke L, Festen EA, Stokkers PC, van Bodegraven AA, Crusius JB, Hommes DW, Zanen P, de Jong DJ, Wijmenga C, van Diemen CC, Weersma RK. Fransen K, et al. Among authors: wijmenga c. Hum Mol Genet. 2010 Sep 1;19(17):3482-8. doi: 10.1093/hmg/ddq264. Epub 2010 Jul 3. Hum Mol Genet. 2010. PMID: 20601676
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, Dijkstra G, Hoekstra D, Mercer D, Ksiazyk J, Wijmenga C, Wapenaar MC, Rings EH, van IJzendoorn SC. Szperl AM, et al. Among authors: wijmenga c. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):307-13. doi: 10.1097/MPG.0b013e3181eea177. J Pediatr Gastroenterol Nutr. 2011. PMID: 21206382 Free PMC article.
704 results