Browsing by Author "Curotto, Bianca"

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 ...
    • 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 ...
    • Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 ... 
      Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Curotto, Bianca; Morales, Paulina; Morales, Karla; Aliaga, Solange; Pugin, Angela; Alliende, María Angélica (Springer, 2016)
      Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but ...
    • 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, ...