Browsing by Author "5a2acd2d-ae82-47fe-a33e-2c7109c8e8d9"

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    • 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 ...