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Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D. Stasia MJ, et al. Among authors: boelens jj. Eur J Hum Genet. 2013 Oct;21(10):1079-84. doi: 10.1038/ejhg.2012.310. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340515 Free PMC article.
A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.
Flinsenberg TWH, Janssen WJ, Herczenik E, Boross P, Nederend M, Jongeneel LH, Scholman RC, Boelens JJ, Maas C, van Gijn ME, van Montfrans JM, Leusen JH, Boes M. Flinsenberg TWH, et al. Among authors: boelens jj. Clin Immunol. 2014 Nov;155(1):108-117. doi: 10.1016/j.clim.2014.09.006. Epub 2014 Sep 19. Clin Immunol. 2014. PMID: 25242138
Viral PCR positivity in stool before allogeneic hematopoietic cell transplantation is strongly associated with acute intestinal graft-versus-host disease.
van Montfrans J, Schulz L, Versluys B, de Wildt A, Wolfs T, Bierings M, Gerhardt C, Lindemans C, Wensing A, Boelens JJ. van Montfrans J, et al. Among authors: boelens jj. Biol Blood Marrow Transplant. 2015 Apr;21(4):772-4. doi: 10.1016/j.bbmt.2015.01.009. Epub 2015 Jan 15. Biol Blood Marrow Transplant. 2015. PMID: 25598276 Free article.
A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis.
Smits BM, van Montfrans J, Merrill SA, van de Corput L, van Gijn M, de Vries A, van den Bos C, Abbink F, van der Molen RG, Dors N, Lindemans C, Boelens JJ, Nierkens S. Smits BM, et al. Among authors: boelens jj. J Clin Immunol. 2021 Aug;41(6):1219-1228. doi: 10.1007/s10875-021-01005-7. Epub 2021 Mar 29. J Clin Immunol. 2021. PMID: 33779897 Free PMC article.
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG. Bryceson YT, et al. Among authors: boelens jj. Blood. 2007 Sep 15;110(6):1906-15. doi: 10.1182/blood-2007-02-074468. Epub 2007 May 24. Blood. 2007. PMID: 17525286 Free PMC article.
272 results