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Items: 13

1.

Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68.

Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE.

Genes (Basel). 2017 Jan 24;8(2). pii: E47. doi: 10.3390/genes8020047.

2.

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.

Shelton AL, Cornish KM, Kolbe S, Clough M, Slater HR, Li X, Kraan CM, Bui QM, Godler DE, Fielding J.

Transl Psychiatry. 2016 Dec 13;6(12):e984. doi: 10.1038/tp.2016.250.

3.

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE.

Genes (Basel). 2016 Sep 21;7(9). pii: E68. doi: 10.3390/genes7090068.

4.

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.

Kraan CM, Cornish KM, Bui QM, Li X, Slater HR, Godler DE.

Sci Rep. 2016 Jul 8;6:29366. doi: 10.1038/srep29366.

5.

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Godler DE, Inaba Y, Schwartz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, Amor DJ, Metcalfe SA, Hopper JL, Slater HR.

Expert Rev Mol Med. 2015 Jul 1;17:e13. doi: 10.1017/erm.2015.11. Review.

6.

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.

Cornish KM, Kraan CM, Bui QM, Bellgrove MA, Metcalfe SA, Trollor JN, Hocking DR, Slater HR, Inaba Y, Li X, Archibald AD, Turbitt E, Cohen J, Godler DE.

Neurology. 2015 Apr 21;84(16):1631-8. doi: 10.1212/WNL.0000000000001496. Epub 2015 Mar 25.

7.

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.

Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10.

8.

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

Godler DE, Slater HR, Bui QM, Ono M, Gehling F, Francis D, Amor DJ, Hopper JL, Hagerman R, Loesch DZ.

J Mol Diagn. 2011 Sep;13(5):528-36. doi: 10.1016/j.jmoldx.2011.05.006. Epub 2011 Jun 30.

9.

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.

Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362.

10.

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

Godler DE, Slater HR, Amor D, Loesch DZ.

Genet Med. 2010 Sep;12(9):595. doi: 10.1097/GIM.0b013e3181f07088. No abstract available.

11.

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR.

Hum Mol Genet. 2010 Apr 15;19(8):1618-32. doi: 10.1093/hmg/ddq037. Epub 2010 Jan 29.

12.

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

Loesch DZ, Godler DE, Khaniani M, Gould E, Gehling F, Dissanayake C, Burgess T, Tassone F, Huggins R, Slater H, Choo KH.

Am J Med Genet A. 2009 Oct;149A(10):2306-10. doi: 10.1002/ajmg.a.32990. No abstract available.

13.

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders.

Godler DE, Loesch DZ, Huggins R, Gordon L, Slater HR, Gehling F, Burgess T, Choo KH.

BMC Clin Pathol. 2009 Jun 9;9:5. doi: 10.1186/1472-6890-9-5.

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