Browsing by Author "4454b6f4-b23b-48f8-a1a6-8f653c0a342c"

Now showing items 1-3 of 3

    • Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort ... 
      Arpone, Marta; Baker, Emma K.; Bretherton, Lesley; Bui, Minh; Li, Xin; Whitaker, Simon; Dissanayake, Cheryl; Cohen, Jonathan; Hickerton, Chriselle; Rogers, Carolyn; Field, Mike; Elliott, Justine; Aliaga, Solange M.; Ling, Ling; Francis, David; Hearps, Stephen J. C.; Hunter, Matthew F.; Amor, David J.; Godler, David E. (Nature Publishing Group, 2018)
      Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these ...
    • Molecular inconsistencies in a fragile X male with early onset ataxia 
      Hwang, Yun Tae; Dudding, Tracy; Aliaga, Solange Mabel; Arpone, Marta; Francis, David; Li, Xin; Slater, Howard Robert; Rogers, Carolyn; Bretherton, Lesley; du Sart, Desirée; Heard, Robert; Godler, David Eugeny (MDPI AG, 2016)
      © 2016 by the authors; licensee MDPI, Basel, Switzerland. Mosaicism for FMR1 premutation (PM: 55–199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less ...
    • Partially Methylated Alleles, Microdeletion, and Tissue Mosaicism in a Fragile X Male with Tremor and Ataxia ... 
      Hwang, Yun Tae; Aliaga Vera, Solange; Arpone, Marta; Francis, David; Li, Xin; Chong, Belinda; Slater, Howard; Rogers, Carolyn; Bretherton, Lesley; Hunter, Matthew; Heard, Robert; Godler, David (Wiley, 2016)
      CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability ...