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Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Loesch DZ, Godler DE, Evans A, Bui QM, Gehling F, Kotschet KE, Trost N, Storey E, Stimpson P, Kinsella G, Francis D, Thorburn DR, Venn A, Slater HR, Horne M. Loesch DZ, et al. Among authors: godler de. Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362. Genet Med. 2011. PMID: 21270637 Free PMC article.
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Inaba Y, et al. Among authors: godler de. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060046 Free article.
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR. Godler DE, et al. Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10. Hum Mol Genet. 2013. PMID: 23307923 Free PMC article.
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Inaba Y, Schwartz CE, Bui QM, Li X, Skinner C, Field M, Wotton T, Hagerman RJ, Francis D, Amor DJ, Hopper JL, Loesch DZ, Bretherton L, Slater HR, Godler DE. Inaba Y, et al. Among authors: godler de. Clin Chem. 2014 Jul;60(7):963-73. doi: 10.1373/clinchem.2013.217331. Epub 2014 Apr 28. Clin Chem. 2014. PMID: 24778142
Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.
Hocking DR, Kraan CM, Godler DE, Bui QM, Li X, Bradshaw JL, Georgiou-Karistianis N, Metcalfe SA, Archibald AD, Turbitt E, Fielding J, Trollor J, Cohen J, Cornish KM. Hocking DR, et al. Among authors: godler de. Neurobiol Aging. 2015 Mar;36(3):1400-8. doi: 10.1016/j.neurobiolaging.2014.11.012. Epub 2014 Nov 26. Neurobiol Aging. 2015. PMID: 25541421
61 results