Browsing by Author "8cd05242-3b0b-4e94-8e08-1a1052fffbc7"
Now showing items 1-7 of 7
-
Jaramillo, Arturo; Gaete, Germán; Romero, Pablo; Orellana, Patricia; Illanes, Sergio (2009)A 16-year-old boy recently diagnosed with acute posterior multifocal placoid pigment epitheliopathy (APMPPE) developed an acute infarct in the left pontine region. No relevant abnormalities were found in the brain and ...
-
Romero, Pablo; Sanhueza, Felipe; Lopez, Pamela; Reyes, Loreto; Gavia Herrera, Luisa (2011)Purpose: To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular ...
-
Romero, Pablo; Moraga, Mauricio; Gavia Herrera, Luisa (2010)Purpose: To describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean families with lattice corneal dystrophy type I (LCDI). ...
-
Muiño, Laura; Donoso, Rodrigo; Villegas, Rodrigo; Romero, Pablo; Peredo, Daniel E.; Vargas, Rafael A.; Liempi, Daniela; Osuna, Antonio; Jercic, María Isabel (Springer Netherlands, 2019)© 2018, Springer Nature B.V.Purpose: This retrospective, observational study was designed to evaluate the effectiveness of the sampling methods commonly used for the collection of corneal scrapes for the diagnosis of ...
-
Pincheira, Juana; Romero, Pablo; Marcelain Cubillos, Katherine; Salazar, Lorena; de la Torre, Consuelo (2007)The amount of DNA lesions repaired in G2 and also G2 timing are controlled by the DNA damage-dependent checkpoint. Down syndrome (DS) lymphocytes showed twice as much constitutive DNA damage in G2 than control ones, when ...
-
Nakousi Capurro, Nicole; Huserman, Jonathan; Castillo, Silvia; Gavia Herrera, Luisa; Romero, Pablo; Pizarro, Felipe; Quezada, Cristian; Cea, Francisco (Wiley, 2020)Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It ...
-
Romero, Pablo; Fernández, Verónica; Slabaugh, Mark; Seleme, Nicolás; Reyes, Nury; Gallardo, Patricia; Herrera, Luisa; Peña, Luis; Pezo, Patricio; Moraga, Mauricio (2014)Purpose: The clinical impact of mDNA mutations on the development of Leber hereditary optic neuropathy (LHON) may be modulated by mitochondrial haplogroups, which vary across populations. The aim of this research was to ...