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FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Among authors: gautier p. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.
Functional characterization of the human RPGR proximal promoter.
Shu X, Simpson JR, Hart AW, Zeng Z, Patnaik SR, Gautier P, Murdoch E, Tulloch B, Wright AF. Shu X, et al. Among authors: gautier p. Invest Ophthalmol Vis Sci. 2012 Jun 26;53(7):3951-8. doi: 10.1167/iovs.11-8811. Invest Ophthalmol Vis Sci. 2012. PMID: 22577079
Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.
Ravi V, Bhatia S, Gautier P, Loosli F, Tay BH, Tay A, Murdoch E, Coutinho P, van Heyningen V, Brenner S, Venkatesh B, Kleinjan DA. Ravi V, et al. Among authors: gautier p. PLoS Genet. 2013;9(1):e1003177. doi: 10.1371/journal.pgen.1003177. Epub 2013 Jan 24. PLoS Genet. 2013. PMID: 23359656 Free PMC article.
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR. Rainger JK, et al. Among authors: gautier p. Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363063 Free PMC article.
330 results