Now showing items 1-5 of 5

    • 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 ...
    • 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 ...
    • Psicopatología psiquiátrica y terapia ocupacional 

      Soto Reyes, Paula; Rueda Castro, Laura (Universidad de Chile - Escuela de Terapia Ocupacional, 2007)
    • Sexualidad e inclusión de personas con discapacidad 

      Besoain Saldaña, Ávaro; Carvajal Gutiérrez, Bielka; Cornejo Aravena, Claudia; Henríquez Ortiz, Matías; Rueda Castro, Laura; Soto Reyes, Paula; Rebolledo Sanhueza, Jame (SENADIS; Universidad de Chile, Facultad de Medicina, 2019)