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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. Loesch DZ, et al. Among authors: slater h. Am J Med Genet A. 2009 Oct;149A(10):2306-10. doi: 10.1002/ajmg.a.32990. Am J Med Genet A. 2009. PMID: 19760650 Free PMC article. No abstract available.
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. Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362. Genet Med. 2011. PMID: 21270637 Free PMC article.
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.
Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M. Loesch DZ, et al. Among authors: slater hr. Clin Genet. 2009 Nov;76(5):471-6. doi: 10.1111/j.1399-0004.2009.01275.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796183 Free PMC article.
456 results