Browsing by Author "eb36e373-ca55-4449-aedf-8ed6329fd5ae"

Now showing items 1-5 of 5

    • 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 ...
    • Impact of strength training exercise on secondary prevention of childhood obesity; an intervention within ... 
      Vásquez Vergara, Fabián; Díaz Bustos, Erik; Lera Marques, Lydia; Meza, Jorge; Salas, Isabel; Rojas, Pamela; Atalah, Eduardo; Burrows, Raquel (2013)
      Introduction: The physical exercise is an important therapeutic tool to prevent and treat obesity, as well as reducing metabolic alterations and the risk of non-communicable diseases. Objective: To evaluate the impact of ...
    • Impacto del ejercicio de fuerza muscular en la prevención secundaria de la obesidad infantil; intervención ... 
      Vásquez Vergara, Fabián; Díaz Bustos, Erik; Lera Marques, Lydia; Meza, Jorge; Salas, Isabel; Rojas Mondaca, Pamela; Atalah Samur, Eduardo; Burrows, Raquel (2013)
      Introducción: El ejercicio físico es una importante herramienta terapéutica para prevenir y tratar la obesidad y disminuir las alteraciones metabólicas asociadas al desarrollo de las enfermedades crónicas no ...
    • 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 ...
    • Residual effect of muscle strength exercise in secondary prevention of childhood obesity Efecto residual ... 
      Vásquez Vergara, Fabián; Díaz Bustos, Erik; Lera Marques, Lydia; Meza, Jorge; Salas, Isabel; Rojas, Pamela; Atalah, Eduardo; Burrows, Raquel (2013)
      Introduction: The high prevalence of the obesity in Chilean students (23,1%), necessitates the application of interventions that incorporate muscle strength exercise, as this shows great efficacy in obese children. Objective: ...