Browsing by Author "Eyheramendy, Susana"

Now showing items 1-3 of 3

    • Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase ... 
      Tobar, Hugo E.; Cataldo, Luis R.; González, Trinidad; Rodríguez, Ricardo; Serrano, Valentina; Arteaga, Antonio; Álvarez-Mercado, Ana; Lagos, Carlos F.; Vicuña, Lucas; Miranda, José P.; Pereira, Ana; Bravo, Carolina; Aguilera, Concepción M.; Eyheramendy, Susana; Uauy Dagach-Imbarack, Ricardo (BioMed Central Ltd., 2019)
      Background: Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is ...
    • Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in chilean boys 
      Vicuña, Lucas; Norambuena, Tomás; Miranda, José Patricio; Pereira Scalabrino, Ana Inés; Mericq Guila, María Verónica; Ongaro, Linda; Montinaro, Francesco; Santos, José L.; Eyheramendy, Susana (Springer, 2021)
      Puberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association ...
    • Screening of COVID-19 cases through a Bayesian network symptoms model and psychophysical olfactory test 
      Eyheramendy, Susana; Saa, Pedro A.; Undurraga, Eduardo A.; Valencia, Carlos; López, Carolina; Méndez, Luis; Pizarro Berdichevsky, Javier Alejandro; Finkelstein Kulka, Andrés; Solari, Sandra; Salas, Nicolás; Bahamondes, Pedro; Ugarte, Martín; Barceló, Pablo; Arenas, Marcelo; Agosín, Eduardo (Cell, 2021)
      The sudden loss of smell is among the earliest and most prevalent symptoms of COVID-19 when measured with a clinical psychophysical test. Research has shown the potential impact of frequent screening for olfactory ...