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Page 1
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: van belzen m, van gils j. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: van belzen mj, van ravenswaaij arts cm. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832
Benign and malignant tumors in Rubinstein-Taybi syndrome.
Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, Wesseling P, Hennekam RC, de Jong D. Boot MV, et al. Among authors: van belzen mj. Am J Med Genet A. 2018 Mar;176(3):597-608. doi: 10.1002/ajmg.a.38603. Epub 2018 Jan 23. Am J Med Genet A. 2018. PMID: 29359884 Free PMC article.
Rubinstein-Taybi syndrome (CREBBP, EP300).
van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.
Keloids in Rubinstein-Taybi syndrome: a clinical study.
van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJ, Hennekam RC. van de Kar AL, et al. Among authors: van belzen mj. Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21. Br J Dermatol. 2014. PMID: 25132000 Review.
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
Dauwerse JG, van Belzen M, van Haeringen A, van Santen G, van de Lans C, Rahikkala E, Garavelli L, Breuning M, Hennekam R, Peters D. Dauwerse JG, et al. Among authors: van santen g, van belzen m, van haeringen a, van de lans c. Eur J Hum Genet. 2016 Nov;24(11):1639-1643. doi: 10.1038/ejhg.2016.47. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165009 Free PMC article.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: van minderhout ij, van belzen mj, van der wielen mj, van haeringen a, van bon bw, van der lans ca. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
de Vries TI, Monroe GR, van Belzen MJ, van der Lans CA, Savelberg SM, Newman WG, van Haaften G, Nievelstein RA, van Haelst MM. de Vries TI, et al. Among authors: van haelst mm, van belzen mj, van haaften g, van der lans ca. Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9. Eur J Hum Genet. 2016. PMID: 26956253 Free PMC article.
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