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Down syndrome gene dosage imbalance on cerebellum development.
Moldrich RX, Dauphinot L, Laffaire J, Rossier J, Potier MC. Moldrich RX, et al. Among authors: potier mc. Prog Neurobiol. 2007 Jun;82(2):87-94. doi: 10.1016/j.pneurobio.2007.02.006. Epub 2007 Feb 23. Prog Neurobiol. 2007. PMID: 17408845 Review.
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, Stora S, Ripoll C, Mircher C, Grattau Y, Olivomarin JC, de Chaumont F, Lecourtois M, Antonarakis SE, Veltman JA, Delabar JM, Duyckaerts C, Di Paolo G, Potier MC. Cossec JC, et al. Among authors: potier mc. Hum Mol Genet. 2012 Jul 15;21(14):3156-72. doi: 10.1093/hmg/dds142. Epub 2012 Apr 17. Hum Mol Genet. 2012. PMID: 22511594 Free PMC article.
Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
Ripoll C, Rivals I, Ait Yahya-Graison E, Dauphinot L, Paly E, Mircher C, Ravel A, Grattau Y, Bléhaut H, Mégarbane A, Dembour G, de Fréminville B, Touraine R, Créau N, Potier MC, Delabar JM. Ripoll C, et al. Among authors: potier mc. PLoS One. 2012;7(8):e41616. doi: 10.1371/journal.pone.0041616. Epub 2012 Aug 9. PLoS One. 2012. PMID: 22912673 Free PMC article.
330 results