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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
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.
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EA, Litzman J, Kondratenko I, van Dongen JJ, van der Burg M. van Zelm MC, et al. Among authors: van dongen jj, van der burg m. Am J Hum Genet. 2008 Feb;82(2):320-32. doi: 10.1016/j.ajhg.2007.10.011. Am J Hum Genet. 2008. PMID: 18252213 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.
443 results