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Cutaneous clues for diagnosing X-chromosomal disorders.
Vreeburg M, Sallevelt SC, Stegmann AP, van Geel M, Detisch YJ, Schrander-Stumpel CT, van Steensel MA, Marcus-Soekarman D. Vreeburg M, et al. Clin Genet. 2014 Apr;85(4):328-35. doi: 10.1111/cge.12162. Epub 2013 Aug 14. Clin Genet. 2014. PMID: 23578112
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
van Steensel MA, Vreeburg M, Peels C, van Ravenswaaij-Arts CM, Bijlsma E, Schrander-Stumpel CT, van Geel M. van Steensel MA, et al. Among authors: vreeburg m. Exp Dermatol. 2006 Sep;15(9):731-4. doi: 10.1111/j.1600-0625.2006.00474.x. Exp Dermatol. 2006. PMID: 16881968
Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ, Castelijns FC, Willemsen M, van Steensel MA. Steijlen PM, et al. Among authors: vreeburg m. Br J Dermatol. 2007 Dec;157(6):1225-9. doi: 10.1111/j.1365-2133.2007.08254.x. Epub 2007 Oct 18. Br J Dermatol. 2007. PMID: 17949453
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH. van Steensel MA, et al. Among authors: vreeburg m. Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473. Am J Med Genet A. 2008. PMID: 18925676
56 results