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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. Among authors: van steensel ma, van geel m. Clin Genet. 2014 Apr;85(4):328-35. doi: 10.1111/cge.12162. Epub 2013 Aug 14. Clin Genet. 2014. PMID: 23578112
Genodermatoses caused by genetic mosaicism.
Vreeburg M, van Steensel MA. Vreeburg M, et al. Among authors: van steensel ma. Eur J Pediatr. 2012 Dec;171(12):1725-35. doi: 10.1007/s00431-012-1855-9. Epub 2012 Nov 1. Eur J Pediatr. 2012. PMID: 23114847 Review.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM. de Vos IJHM, et al. Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168. Hum Mol Genet. 2018. PMID: 29741626 Free PMC article.
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: van lent j. 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
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Klaassens M, et al. Among authors: van steensel ma. Clin Genet. 2012 Aug;82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801164 Free PMC article.
217 results