Browsing by Author "Barbieri Ortiz, Zulema de,"

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    • Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific ... 
      Villanueva Bianchini, Pía; Nudel, Ron; Hoischen, Alexander; Fernández, María Angélica; Simpson, Nuala H.; Gilissen, Christian; Reader, Rose H.; Jara Sosa, Lilian; Echeverry, María Magdalena; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; O’Hare, Anne; Bolton, Patrick F.; Hennessy, Elizabeth R.; Palomino, Hernán; Carvajal Carmona, Luis; Veltman, Joris A.; Cazier, Jean-Baptiste; Barbieri Ortiz, Zulema de,; Fisher, Simon E.; Newbury, Dianne F. (Public Library Science, 2015)
      Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic ...
    • Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population 
      Villanueva, Pia; Newbury, Dianne F.; Jara, Lilian; Barbieri Ortiz, Zulema de,; Mirza, Ghazala; Palamino, Hernán M.; Fernández, María Angélica; Cazier, Jean Baptiste; Monaco, Anthony P.; Palomino, Hernán (2011)
      Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the ...
    • High prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect Alta ... 
      Villanueva Bianchini, Pía; Barbieri Ortiz, Zulema de,; Palomino, Hernán M.; Palomino, Hernán (2008)
      Background: Specific language impairment (SLI) occurs in 2% to 8% of preschool children. Major and candidate genes are probably involved. Genetic drift is a cause for the presence of high frequencies of deleterious alleles ...