Browsing by Author "Santa María Vásquez, Lorena"
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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 ...
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Santa María Vásquez, Lorena (Universidad de Chile, 2005)El objetivo central de esta tesis fue estudiar el(los) factores ( es) derivados del tejido muscular dañado capaces de inducir la diferenciación miogénica de células troncales mesenquimáticas de la médula ósea. Para ...
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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, ...
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Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Bui, Minh; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa María Vásquez, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende, Angélica M.; Amor, David J.; Godle, David E. (BioMed Central, 2019)Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...
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Faúndes Gómez, Víctor; Santa María Vásquez, Lorena; Aliaga Vera, Solange; Curotto Liotta, Bianca; Pugin Aguayo, Ángela; Alliende Rodríguez, María Angélica (Wiley, 2015)