de Vooght KM - Search Results

1

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

Vastert SJ, van Wijk R, D'Urbano LE, de Vooght KM, de Jager W, Ravelli A, Magni-Manzoni S, Insalaco A, Cortis E, van Solinge WW, Prakken BJ, Wulffraat NM, de Benedetti F, Kuis W. Vastert SJ, et al. Among authors: de vooght km, de benedetti f, de jager w. Rheumatology (Oxford). 2010 Mar;49(3):441-9. doi: 10.1093/rheumatology/kep418. Epub 2009 Dec 17. Rheumatology (Oxford). 2010. PMID: 20019066

2

Management of gene promoter mutations in molecular diagnostics.

de Vooght KM, van Wijk R, van Solinge WW. de Vooght KM, et al. Clin Chem. 2009 Apr;55(4):698-708. doi: 10.1373/clinchem.2008.120931. Epub 2009 Feb 26. Clin Chem. 2009. PMID: 19246615 Review.

3

Pyruvate kinase regulatory element 1 (PKR-RE1) mediates hexokinase gene expression in K562 cells.

de Vooght KM, van Wijk R, van Oirschot BA, Rijksen G, van Solinge WW. de Vooght KM, et al. Blood Cells Mol Dis. 2005 Mar-Apr;34(2):186-90. doi: 10.1016/j.bcmd.2004.10.002. Blood Cells Mol Dis. 2005. PMID: 15727904

4

Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human gamma-globin genes.

de Vooght KM, van Wijk R, Ploos van Amstel HK, van Solinge WW. de Vooght KM, et al. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):70-4. doi: 10.1016/j.bcmd.2007.03.002. Epub 2007 Apr 25. Blood Cells Mol Dis. 2007. PMID: 17462922

5

First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis.

de Vooght KM, van Solinge WW, van Wesel AC, Kersting S, van Wijk R. de Vooght KM, et al. Haematologica. 2009 Sep;94(9):1203-10. doi: 10.3324/haematol.2008.002881. Epub 2009 Jul 16. Haematologica. 2009. PMID: 19608687 Free PMC article.

6

A family with multiple mutations and sequence variations in the alpha- and beta-globin gene clusters.

de Vooght KM, van Wijk R, Rijksen G, van Solinge WW. de Vooght KM, et al. Clin Chem Lab Med. 2008;46(2):165-8. doi: 10.1515/CCLM.2008.037. Clin Chem Lab Med. 2008. PMID: 18076350

7

GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX.

de Vooght KM, van Wijk R, van Solinge WW. de Vooght KM, et al. Gene. 2008 Feb 15;409(1-2):83-91. doi: 10.1016/j.gene.2007.11.010. Epub 2007 Dec 4. Gene. 2008. PMID: 18191920

8

Persistent A-antigen after stem cell transplantation of blood group A patient with non-A donor.

de Vooght KM, Schutgens RE, van Solinge WW. de Vooght KM, et al. Am J Hematol. 2012 Nov;87(11):E118-9. doi: 10.1002/ajh.23310. Epub 2012 Aug 1. Am J Hematol. 2012. PMID: 23090889 Free article.

9

Gene promoter analysis in molecular diagnostics: do or don't?

de Vooght KM, van Solinge WW. de Vooght KM, et al. Expert Rev Mol Diagn. 2009 Jul;9(5):403-5. doi: 10.1586/erm.09.28. Expert Rev Mol Diagn. 2009. PMID: 19580424 Review. No abstract available.

10

Extracellular vesicles in the circulation: are erythrocyte microvesicles a confounder in the plasma haemoglobin assay?

de Vooght KM, Lau C, de Laat PP, van Wijk R, van Solinge WW, Schiffelers RM. de Vooght KM, et al. Among authors: de laat pp. Biochem Soc Trans. 2013 Feb 1;41(1):288-92. doi: 10.1042/BST20120254. Biochem Soc Trans. 2013. PMID: 23356299 Review.

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