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Late-onset adenosine deaminase deficiency presenting with Heck's disease.
Artac H, Göktürk B, Bozdemir SE, Toy H, van der Burg M, Santisteban I, Hershfield M, Reisli I. Artac H, et al. Among authors: van der burg m. Eur J Pediatr. 2010 Aug;169(8):1033-6. doi: 10.1007/s00431-009-1131-9. Epub 2009 Dec 29. Eur J Pediatr. 2010. PMID: 20039061
An antibody-deficiency syndrome due to mutations in the CD19 gene.
van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL. van Zelm MC, et al. Among authors: van noesel cj, van dongen jj, van tol mj, van der burg m. N Engl J Med. 2006 May 4;354(18):1901-12. doi: 10.1056/NEJMoa051568. N Engl J Med. 2006. PMID: 16672701 Free article.
Iris atrophy in a patient with X-linked agammaglobulinemia.
Reisli I, Artac H, van der Burg M, Ozturk BT. Reisli I, et al. Among authors: van der burg m. Can J Ophthalmol. 2007 Dec;42(6):882-3. doi: 10.3129/i07-169. Can J Ophthalmol. 2007. PMID: 18059520 No abstract available.
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M. Turul T, et al. Among authors: van dongen jj, van der burg m. Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29. Eur J Pediatr. 2009. PMID: 18509675
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: van der maarel sm, van tol mj, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der flier m, van der burg m. Hum Mutat. 2013 Dec;34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 24027040 Free PMC article.
Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.
van Zelm MC, Bartol SJ, Driessen GJ, Mascart F, Reisli I, Franco JL, Wolska-Kusnierz B, Kanegane H, Boon L, van Dongen JJ, van der Burg M. van Zelm MC, et al. Among authors: van dongen jj, van der burg m. J Allergy Clin Immunol. 2014 Jul;134(1):135-44. doi: 10.1016/j.jaci.2013.11.015. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418477
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD. Felgentreff K, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25. J Allergy Clin Immunol. 2015. PMID: 25917813 Free PMC article.
444 results