Roos D - Search Results

1

Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans.

Vendelbosch S, de Boer M, Gouw RA, Ho CK, Geissler J, Swelsen WT, Moorhouse MJ, Lardy NM, Roos D, van den Berg TK, Kuijpers TW. Vendelbosch S, et al. Among authors: roos d. PLoS One. 2013 Jun 28;8(6):e67619. doi: 10.1371/journal.pone.0067619. Print 2013. PLoS One. 2013. PMID: 23840750 Free PMC article.

2

Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.

Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW. Breunis WB, et al. Among authors: roos d. Blood. 2008 Feb 1;111(3):1029-38. doi: 10.1182/blood-2007-03-079913. Epub 2007 Sep 7. Blood. 2008. PMID: 17827395 Free article.

3

Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B.

Breunis WB, van Mirre E, Geissler J, Laddach N, Wolbink G, van der Schoot E, de Haas M, de Boer M, Roos D, Kuijpers TW. Breunis WB, et al. Among authors: roos d. Hum Mutat. 2009 May;30(5):E640-50. doi: 10.1002/humu.20997. Hum Mutat. 2009. PMID: 19309690

4

Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene.

de Boer M, van Leeuwen K, Geissler J, Weemaes CM, van den Berg TK, Kuijpers TW, Warris A, Roos D. de Boer M, et al. Among authors: roos d. Hum Mutat. 2014 Apr;35(4):486-96. doi: 10.1002/humu.22519. Epub 2014 Feb 24. Hum Mutat. 2014. PMID: 24478191

5

A novel splice variant of FcγRIIa: a risk factor for anaphylaxis in patients with hypogammaglobulinemia.

van der Heijden J, Geissler J, van Mirre E, van Deuren M, van der Meer JW, Salama A, van den Berg TK, Roos D, Kuijpers TW. van der Heijden J, et al. Among authors: roos d. J Allergy Clin Immunol. 2013 May;131(5):1408-16.e5. doi: 10.1016/j.jaci.2013.02.009. Epub 2013 Mar 29. J Allergy Clin Immunol. 2013. PMID: 23545275

6

Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.

Hayrapetyan A, Dencher PC, van Leeuwen K, de Boer M, Roos D. Hayrapetyan A, et al. Among authors: roos d. Biochim Biophys Acta. 2013 Oct;1832(10):1662-72. doi: 10.1016/j.bbadis.2013.05.001. Epub 2013 May 18. Biochim Biophys Acta. 2013. PMID: 23688784 Free article.

7

How neutrophils kill fungi.

Gazendam RP, van de Geer A, Roos D, van den Berg TK, Kuijpers TW. Gazendam RP, et al. Among authors: roos d. Immunol Rev. 2016 Sep;273(1):299-311. doi: 10.1111/imr.12454. Immunol Rev. 2016. PMID: 27558342 Review.

8

Retrotransposable genetic elements causing neutrophil defects.

Roos D, de Boer M. Roos D, et al. Eur J Clin Invest. 2018 Nov;48 Suppl 2:e12953. doi: 10.1111/eci.12953. Epub 2018 Jun 14. Eur J Clin Invest. 2018. PMID: 29774526 Review.

9

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.

De Boer M, Gavrieli R, van Leeuwen K, Wolf HR, Dushnitzki M, Bar-Yosef Y, Bar-Ziv A, Behar D, Lipitz S, Miller TE, Tool ATJ, Kuijpers TW, van den Berg TK, Wolach B, Roos D, Pras E. De Boer M, et al. Among authors: roos d. J Med Genet. 2018 Mar;55(3):166-172. doi: 10.1136/jmedgenet-2017-105022. Epub 2018 Jan 13. J Med Genet. 2018. PMID: 29331982

10

Mutations in cis that affect mRNA synthesis, processing and translation.

Roos D, de Boer M. Roos D, et al. Biochim Biophys Acta Mol Basis Dis. 2021 Sep 1;1867(9):166166. doi: 10.1016/j.bbadis.2021.166166. Epub 2021 May 8. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33971252 Free article. Review.

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