Browsing by Author "Faúndes Gómez, Víctor"

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    • 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, ...