Browsing by Author "35f6db1e-e448-4af9-8a14-a571fd17bacc"

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    • Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features 
      Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Bui, Minh; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa María Vásquez, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende, Angélica M.; Amor, David J.; Godle, David E. (BioMed Central, 2019)
      Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...
    • 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 ...