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Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Among authors: van der velde jk, van ravenswaaij arts cm, van langen im. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
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: van bodegraven aa, van diemen cc, van sommeren s. 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
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: van diemen cc, van der meer jw, van gijn m, van deuren m. 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
Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants.
Romanos J, Rosén A, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC, Kanninga R, Jankipersadsing SA, Steck A, Eisenbarth G, van Heel DA, Cukrowska B, Bruno V, Mazzilli MC, Núñez C, Bilbao JR, Mearin ML, Barisani D, Rewers M, Norris JM, Ivarsson A, Boezen HM, Liu E, Wijmenga C; PreventCD Group. Romanos J, et al. Among authors: van heel da, van diemen cc. Gut. 2014 Mar;63(3):415-22. doi: 10.1136/gutjnl-2012-304110. Epub 2013 May 23. Gut. 2014. PMID: 23704318 Free PMC article. Clinical Trial.
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM. Jazayeri O, et al. Among authors: van diemen cc, van ravenswaaij arts cm. Eur J Med Genet. 2015 Dec;58(12):642-9. doi: 10.1016/j.ejmg.2015.11.001. Epub 2015 Nov 6. Eur J Med Genet. 2015. PMID: 26548497 Review.
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC, Alberts R, Mucha S, Deelen P, de Jong DJ, Pierik M, Spekhorst LM, Imhann F, van der Meulen-de Jong AE, van der Woude CJ, van Bodegraven AA, Oldenburg B, Löwenberg M, Dijkstra G, Ellinghaus D, Schreiber S, Wijmenga C; Initiative on Crohn and Colitis; Parelsnoer Institute; Rivas MA, Franke A, van Diemen CC, Weersma RK. Visschedijk MC, et al. Among authors: van der woude cj, van bodegraven aa, van diemen cc, van der meulen de jong ae. PLoS One. 2016 Aug 4;11(8):e0159609. doi: 10.1371/journal.pone.0159609. eCollection 2016. PLoS One. 2016. PMID: 27490946 Free PMC article.
The emerging landscape of dynamic DNA methylation in early childhood.
Xu CJ, Bonder MJ, Söderhäll C, Bustamante M, Baïz N, Gehring U, Jankipersadsing SA, van der Vlies P, van Diemen CC, van Rijkom B, Just J, Kull I, Kere J, Antó JM, Bousquet J, Zhernakova A, Wijmenga C, Annesi-Maesano I, Sunyer J, Melén E, Li Y, Postma DS, Koppelman GH. Xu CJ, et al. Among authors: van rijkom b, van diemen cc, van der vlies p. BMC Genomics. 2017 Jan 5;18(1):25. doi: 10.1186/s12864-016-3452-1. BMC Genomics. 2017. PMID: 28056824 Free PMC article.
66 results