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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
Sprenkeler EGG, Tool ATJ, Kreft IC, van Alphen FPJ; NBR-RD PID Consortium, NIHR BioResource; Seneviratne SL, Maimaris J, Luqmani A, van Leeuwen K, van Bruggen R, Burns SO, Kuijpers TW. Sprenkeler EGG, et al. Among authors: van leeuwen k, van bruggen r, van alphen fpj. Br J Haematol. 2020 Dec;191(5):930-934. doi: 10.1111/bjh.17081. Epub 2020 Sep 23. Br J Haematol. 2020. PMID: 32966608 No abstract available.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: van leeuwen k. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Study on the protective effect of the KIR3DL1 gene in ankylosing spondylitis.
Vendelbosch S, Heslinga SC, John M, van Leeuwen K, Geissler J, de Boer M, Tanck MW, van den Berg TK, Crusius JB, van der Horst-Bruinsma IE, Kuijpers TW. Vendelbosch S, et al. Among authors: van leeuwen k, van der horst bruinsma ie, van den berg tk. Arthritis Rheumatol. 2015 Nov;67(11):2957-65. doi: 10.1002/art.39288. Arthritis Rheumatol. 2015. PMID: 26238044
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, Roos D, van Alphen F, van Leeuwen K, Cambridge EL, Arends MJ, Dougan G, Clare S, Ramirez-Solis R, Pals ST, Adams DJ, Meijer AB, van den Berg TK. Kuijpers TW, et al. Among authors: van leeuwen k, van der bijl i, van houdt m, van den berg tk, van alphen f. J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10. doi: 10.1016/j.jaci.2016.09.061. Epub 2016 Dec 10. J Allergy Clin Immunol. 2017. PMID: 27965109 No abstract available.
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M, van Leeuwen K, Geissler J, van Alphen F, de Vries E, van der Kuip M, Terheggen SWJ, Janssen H, van den Berg TK, Meijer AB, Roos D, Kuijpers TW. de Boer M, et al. Among authors: van leeuwen k, van den berg tk, van der kuip m, van alphen f. Hum Mutat. 2017 Oct;38(10):1402-1411. doi: 10.1002/humu.23271. Epub 2017 Jun 15. Hum Mutat. 2017. PMID: 28585318
Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females.
Peters AL, Veldthuis M, van Leeuwen K, Bossuyt PMM, Vlaar APJ, van Bruggen R, de Korte D, Van Noorden CJF, van Zwieten R. Peters AL, et al. Among authors: van leeuwen k, van zwieten r, van bruggen r, van noorden cjf. J Histochem Cytochem. 2017 Nov;65(11):627-636. doi: 10.1369/0022155417730021. Epub 2017 Sep 13. J Histochem Cytochem. 2017. PMID: 28902532 Free PMC article.
293 results