Browsing by Author "effb6c17-f4bf-478d-aad9-8852090bfc1d"

Now showing items 1-3 of 3

    • Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil 
      Pugin Aguayo, Ángela; Faúndes Gómez, Víctor; Santa María Vásquez, Lorena; Curotto Liotta, Bianca; Aliaga Vera, Solange; Salas Aliaga, María Isabel; Soto Reyes, Paula; Bravo, Paulina; Peña, María Ignacia; Alliende Rodríguez, María Angélica (Elsevier, 2017-05)
      Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este ...
    • FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile 
      Santa María Vásquez, Lorena; Aliaga Vera, Solange; Faúndes Gómez, Víctor; Morales Roldán, Paulina; Pugin Aguayo, Ángela; Curotto Liotta, Bianca; Soto Reyes, Paula; Peña, María Ignacia; Salas Aliaga, Isabel; Alliende Rodríguez, María Angélica (Cambridge University Press, 2016)
      Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the ...
    • 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 ...