Now showing items 1-10 of 10

    • 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 ...
    • Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial 

      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 ...
    • Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt 

      Alliende Rodríguez, María Angélica; Curotto, Bianca; Guerra, Patricio; Santa María, Lorena; Hermosilla, Reinería; Orphanópoulos, Doris; Villanueva, Jorge; Wettig, Elizabeth; Barraza, Ximena (2011)
      Background: Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifi cally of moderate and severe degree. They account for 0.3 ...
    • Diagnóstico Genético Molecular de Síndrome de Xq-Frágil. 

      Pizarro, Lorena; Alliende Rodríguez, María Angélica; Curotto, B.; Toro, J.; Codriansky, Y.; Cortés, F.; Troncoso, L. (Universidad de Chile - INTA, 2007)
    • 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 ...
    • Methylation status in healthy subjects with normal and high serum folate concentration 

      Hirsch Birn, Sandra; Ronco Macchiavello, Ana María; Guerrero Bosagna, Carlos; Maza Cave, María Pía de la; Leiva Balich, Laura; Barrera Acevedo, María; Llanos Silva, Miguel; Alliende Rodríguez, María Angélica; Silva, Francisca; Bunout Barnett, Daniel (ELSEVIER, 2008-12)
      Objective: We assessed the impact of high serum folate concentration oil erythrocyte S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) concentrations, SAM/SAH ratio, CpG methylation levels across the promoter region ...
    • Molecular Classes in 209 Patients With Prader–Willi or Angelman Syndromes: Lessons for Genetic Counseling 

      Faúndes Gómez, Víctor; Santa María Vásquez, Lorena; Aliaga Vera, Solange; Curotto Liotta, Bianca; Pugin Aguayo, Ángela; Alliende Rodríguez, María Angélica (Wiley, 2015)
    • Systematics, taxonomy and domestication of alpaca and llama: new chromosomal and molecular evidence 

      Marín, Juan C.; Zapata, Beatriz; González, Benito; Bonacic, Cristian; Wheeler, Jane C.; Casey, Ciara; Bruford, Michael W.; Palma, R. Eduardo; Poulin, Elie; Alliende Rodríguez, María Angélica; Spotorno Oyarzún, Ángel (2007)
      Four camelid species exist in South America: two wild, the guanaco (Lama guanicoe) and the vicuna (Victigna vicugna), and two domestic, the alpaca (Lama pacos) and the llama (Lama glama). However, the origin of the domestic ...
    • Systematics, taxonomy and domestication of alpaca and llama: new chromosomal and molecular evidence 

      Marín, Juan C.; Zapata, Beatriz; González, Benito; Bonacic, Cristian; Wheeler, Jane C.; Casey, Ciara; Bruford, Michael W.; Palma, R. Eduardo; Poulin, Elie; Alliende Rodríguez, María Angélica; Spotorno Oyarzún, Ángel (2007)
      Four camelid species exist in South America: two wild, the guanaco (Lama guanicoe) and the vicuna (Victigna vicugna), and two domestic, the alpaca (Lama pacos) and the llama (Lama glama). However, the origin of the domestic ...
    • Systematics, taxonomy and domestication of alpaca and llama: new chromosomal and molecular evidence 

      Marín, Juan C.; Zapata, Beatriz; González, Benito; Bonacic, Cristian; Wheeler, Jane C.; Casey, Ciara; Bruford, Michael W.; Palma, R. Eduardo; Poulin, Elie; Alliende Rodríguez, María Angélica; Spotorno Oyarzún, Ángel (2007)
      Four camelid species exist in South America: two wild, the guanaco (Lama guanicoe) and the vicuna (Victigna vicugna), and two domestic, the alpaca (Lama pacos) and the llama (Lama glama). However, the origin of the domestic ...