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Translational endpoints in fragile X syndrome.
de Esch CE, Zeidler S, Willemsen R. de Esch CE, et al. Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:256-69. doi: 10.1016/j.neubiorev.2013.10.012. Epub 2013 Oct 30. Neurosci Biobehav Rev. 2014. PMID: 24184744 Review.
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.
de Esch CE, Ghazvini M, Loos F, Schelling-Kazaryan N, Widagdo W, Munshi ST, van der Wal E, Douben H, Gunhanlar N, Kushner SA, Pijnappel WW, de Vrij FM, Geijsen N, Gribnau J, Willemsen R. de Esch CE, et al. Stem Cell Reports. 2014 Oct 14;3(4):548-55. doi: 10.1016/j.stemcr.2014.07.013. Epub 2014 Sep 11. Stem Cell Reports. 2014. PMID: 25358783 Free PMC article.
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA. Verkerk AJMH, et al. Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26. Eur J Hum Genet. 2018. PMID: 29374277 Free PMC article.
16 results