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Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Andriessen MVE, Legger GE, Bredius RGM, van Gijn ME, Hak AE, Muller PCEH, Kamphuis S, Klouwer FCC, Kuijpers TW, Leavis HL, Nierkens S, Rutgers A, van der Veken LT, van Well GTJ, Mulders-Manders CM, van Montfrans JM. Andriessen MVE, et al. Among authors: van montfrans jm. J Clin Immunol. 2023 Oct;43(7):1581-1596. doi: 10.1007/s10875-023-01521-8. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37277582 Free PMC article. Review.
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. van der Crabben SN, et al. Among authors: van hasselt pm, van lieshout s, van haaften g, van roosmalen mj, van montfrans jm. J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18. J Clin Invest. 2016. PMID: 27427983 Free PMC article.
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.
Mutant ADA2 in vasculopathies.
van Montfrans J, Zavialov A, Zhou Q. van Montfrans J, et al. N Engl J Med. 2014 Jul 31;371(5):478. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25075845 No abstract available.
Treatment of hyperinsulinaemia in polycystic ovary syndrome?
van Montfrans JM, van Hooff MH, Hompes PG, Lambalk CB. van Montfrans JM, et al. Among authors: van hooff mh. Hum Reprod. 1998 Jan;13(1):5-6. doi: 10.1093/humrep/13.1.5. Hum Reprod. 1998. PMID: 9512218 Review. No abstract available.
112 results