Browsing by Author "afd0b9af-8bee-4377-8045-9383e25bdb5b"

Now showing items 1-2 of 2

    • FMR1 mRNA from full mutation alleles is associated with ABC-C-FX scores in males with fragile X syndrome 
      Baker, Emma K.; Arpone, Marta; Kraan, Claudine; Bui, Minh; Rogers, Carolyn; Field, Michael; Bretherton, Lesley; Ling, Ling; Ure, Alexandra; Cohen, Jonathan; Hunter, Matthew F.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende Rodríguez, Angélica; Amor, David J.; Godler, David E. (Nature, 2020)
      Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with >= 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated ...
    • Patients with fragile X syndrome attending a specialized centre in Chile: parent satisfaction, costs and adherence 
      Faúndes Gómez, Víctor; Salas, Isabel; Correa Burrows, Paulina; Soto Reyes, Paula; Peña, María Ignacia; Pugin, Angela; Bravo, Paulina; Santa María Vásquez, Lorena; Morales, Paulina; Curotto, Bianca; Aliaga, Solange; Alliende, María Angélica (Wiley, 2018)
      The study aim was to evaluate the administration and achievements of a Fragile X syndrome (FXS) centre in Chile. Families with children with FXS who sought care at our centre (CDTSXF) answered a survey to evaluate parent ...