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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: van leeuwen k, van montfrans jm. 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.
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).
Willemse BWM, van der Crabben SN, Kerstjens-Frederikse WS, Timens W, van Montfrans JM, Lindemans CA, Boelens JJ, Hennus MP, van Haaften G. Willemse BWM, et al. Among authors: van der crabben sn, van haaften g, van montfrans jm. Orphanet J Rare Dis. 2021 Mar 19;16(1):137. doi: 10.1186/s13023-021-01770-z. Orphanet J Rare Dis. 2021. PMID: 33741030 Free PMC article.
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. 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 dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.
Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M, Leavis HL, Boelens JJ, Lindemans CA, Bloem AC, van de Corput L, van Montfrans J, Nierkens S, van Gijn ME, Geerke DP, Waterham HR, Koenderman L, Boes M. Smits BM, et al. Clin Immunol. 2020 Mar;212:108248. doi: 10.1016/j.clim.2019.108248. Epub 2019 Aug 2. Clin Immunol. 2020. PMID: 31382036 No abstract available.
Defective calcium signaling and disrupted CD20-B-cell receptor dissociation in patients with common variable immunodeficiency disorders.
van de Ven AA, Compeer EB, Bloem AC, van de Corput L, van Gijn M, van Montfrans JM, Boes M. van de Ven AA, et al. Among authors: van de corput l, van montfrans jm, van gijn m. J Allergy Clin Immunol. 2012 Mar;129(3):755-761.e7. doi: 10.1016/j.jaci.2011.10.020. Epub 2011 Nov 30. J Allergy Clin Immunol. 2012. PMID: 22130422
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.
van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, Monaco-Shawver L, Banerjee PP, Sanders EA, Jol-van der Zijde CM, Betts MR, Orange JS, Bloem AC, Tesselaar K. van Montfrans JM, et al. Among authors: van de corput l, van gijn m. J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6. doi: 10.1016/j.jaci.2011.11.013. Epub 2011 Dec 24. J Allergy Clin Immunol. 2012. PMID: 22197273 Free PMC article.
Lymphocyte characteristics in children with common variable immunodeficiency.
van de Ven AA, van de Corput L, van Tilburg CM, Tesselaar K, van Gent R, Sanders EA, Boes M, Bloem AC, van Montfrans JM. van de Ven AA, et al. Among authors: van gent r, van de corput l, van tilburg cm, van montfrans jm. Clin Immunol. 2010 Apr;135(1):63-71. doi: 10.1016/j.clim.2009.11.010. Epub 2009 Dec 16. Clin Immunol. 2010. PMID: 20006554
105 results