Browsing by Author "73f8f928-1643-4eb6-808e-a5d2865bc1e3"
Now showing items 1-5 of 5
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Rojas, Cecilia V.; Santa María, Lorena; Santos, José Luis; Cortés, Fanny; Alliende, María Angélica (2002)Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...
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Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin Unanue, Nancy; Bazaes, Rodrigo; Iñíguez Vila, Germán; Cortés, Fanny; Ávila, Alejandra; Mericq, Verónica (2007)Prader-Willi syndrome (PWS) is a genetic disorder characterized by dysmorphic features, obesity, hypogonadism, hypotonia and mental retardation. Obesity has been linked to insulin resistance and the latter has also been ...
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Pardo Vargas, Rosa A.; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia (Sociedad Chilena de Pediatria, 2016)© 2016 Sociedad Chilena de Pediatría Introduction The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, ...
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Alliende, M. Angélica; Cámpora, Laura; Curotto, Bianca; Toro, Jessica; Valiente, Alf; Castillo, Marcela; Cortés, Fanny; Trigo, César; Alvarado, Cecilia; Silva, Manuel; Carú Marambio, Margarita (2008)Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this retardation is not known. An early etiologic diagnosis of intellectual disability can ...
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Lacassie, Yves; Johnson, Britt; Lay-Son, Guillermo; Quintana, Rita; King, Andrew; Cortés, Fanny; Álvarez, Cecilia; Gómez, Ricardo; Vargas, Alfonso; Chalew, Stuart; King, Alejandra; Guardia, Sylvia; Sorensen, Ricardo U.; Aradhya, Swaroop (Wiley, 2020)Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal ...