Now showing items 1-3 of 3

    • Efecto residual del ejercicio de fuerza muscular en la prevención secundaria de la obesidad infantil 

      Vásquez Vergara, Fabián; Díaz Bustos, Erik; Lera Marques, Lydia; Meza, Jorge; Salas, Isabel; Rojas Moncada, Pamela; Atalah Samur, Eduardo; Burrows, Raquel (2013)
      Introducción: La elevada prevalencia de la obesidad en escolares chilenos (23,1%), hace necesario la aplicación de intervenciones que incorporen el ejercicio físico de fuerza muscular, pues éste muestra gran eficacia ...
    • Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis 

      Aliaga, Solange M.; Slater, Howard R.; Francis, David; Du Sart, Desiree; Li, Xin; Amor, David J.; Alliende, Angelica M.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Curotto, Bianca; Godler, David E. (Amer. Assoc. Clinical Chemistry, 2016)
      BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, ...
    • 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 ...