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Page 1
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
Blom M, Bredius RGM, Jansen ME, Weijman G, Kemper EA, Vermont CL, Hollink IHIM, Dik WA, van Montfrans JM, van Gijn ME, Henriet SS, van Aerde KJ, Koole W, Lankester AC, Dekkers EHBM, Schielen PCJI, de Vries MC, Henneman L, van der Burg M; SONNET-Study Group. Blom M, et al. Among authors: van gijn me, van aerde kj, van der burg m, van montfrans jm. J Clin Immunol. 2021 Jan;41(1):99-108. doi: 10.1007/s10875-020-00886-4. Epub 2020 Oct 18. J Clin Immunol. 2021. PMID: 33070266 Free PMC article.
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. Curr Opin Allergy Clin Immunol. 2009. PMID: 19823081 Review.
A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.
Kuijpers TW, Baars PA, Aan de Kerk DJ, Jansen MH, Derks IA, Bredius RG, Sanders EA, van der Burg M, Alders M, van Lier RA. Kuijpers TW, et al. Among authors: van lier ra, van der burg m. J Allergy Clin Immunol. 2011 Dec;128(6):1360-1363.e4. doi: 10.1016/j.jaci.2011.07.001. Epub 2011 Aug 9. J Allergy Clin Immunol. 2011. PMID: 21831415 No abstract available.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: van lieshout s, van gijn me, van der zwaag b, van de corput l, van der burg m, van montfrans jm, van zon p. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A, Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van Dongen JJ, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418478 Free PMC article.
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A. Brigida I, et al. Among authors: van dongen jj, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Mar;133(3):799-806.e10. doi: 10.1016/j.jaci.2013.12.1043. Epub 2014 Feb 5. J Allergy Clin Immunol. 2014. PMID: 24506932 Free PMC article.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L. Alkhairy OK, et al. Among authors: van montfrans j, van der burg m, van zelm mc. J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3. J Allergy Clin Immunol. 2015. PMID: 25843314
Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
de Pagter AP, Bredius RG, Kuijpers TW, Tramper J, van der Burg M, van Montfrans J, Driessen GJ; Dutch Working Party for Immunodeficiencies. de Pagter AP, et al. Among authors: van der burg m, van montfrans j. Eur J Pediatr. 2015 Sep;174(9):1183-8. doi: 10.1007/s00431-015-2518-4. Epub 2015 Apr 1. Eur J Pediatr. 2015. PMID: 25875249 Free PMC article.
443 results