Browsing by Subject "Fragile X syndrome"

Now showing items 1-4 of 4

    • Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas ... 
      Alliende Rodríguez, María Angélica; Cámpora, Laura; Curotto, Bianca; Toro, Jessica; Valiente, Alf; Castillo, Marcela; Cortés, Fanny; Trigo, César; Alvarado, Cecilia; Silva, Manuel; Carú Marambio, Margarita (SOC MEDICA SANTIAGO, 2008-12)
      Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this retardation is not known. An early etiologic diagnosis of intellectual disability can ...
    • Novel molecular and clinical aspects of FMR1 in fragile x syndrome highlighting significance of mosaicism 
      Aliaga, S.; Baker, Emma K.; Kraan, C.; Arpone, Marta; Bui, Q.; Li, X.; Ling, Ling; Francis, D.; Hunter, Matthew; Elliot, J.; Rogers, Carolyn; Field, M.; Slater, Howard R.; Bretherton, Lesley; María, L.; Faundes, Víctor; Curotto, B.; Morales, P.; Trigo, C.; Salas, I.; Alliende, Angelica M.; Amor, David J.; Godler, David E. (Wiley, 2018-08)
    • 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 ...
    • 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 ...