Browsing by Author "201-0490777"

Now showing items 1-6 of 6

    • Congenital anomalies of poor prognosis. Genetics Consensus Committee Consenso de la Rama de Genética de la ... 
      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, ...
    • Consideraciones científicas y éticas en las perspectivas diagnósticas y terapéuticas en medicina fetal 
      Valdés Rubio, Enrique; Soto Chacón, Emiliano; Castillo Taucher, Silvia (SOC MEDICA SANTIAGO, 2008-09)
      This review emphasizes the importance of recent developments and knowledge on cell biology and human genetics than have integrated, through a basic-clinical concept, to an emerging branch of medicine, called Perinatal ...
    • Estudio cromosómico en abortos espontáneos 
      Castillo Taucher, Silvia; Fuentes Soto, Ana María; Paulos Millanao, Alejandro; Rosa Rebaza, Eduardo de la (Sociedad Chilena de Obstetricia y Ginecología, 2014)
      Aproximadamente 15% de todos los embarazos clínicos terminan en aborto espontáneo. La causa más frecuente de aborto espontáneo es una anomalía cromosómica fetal, tal como una trisomía autosómica, monosomía X y poliploidía. ...
    • Estudio genético de una familia chilena con tres fenotipos dentales diferentes 
      Pardo Vargas, Rosa; Castillo Taucher, Silvia; Vieira, Alexandre R. (SOC MEDICA SANTIAGO, 2006-12)
      Background: Congenital dental anomalies can affect up to 25% of the population. Aim: To report the genetic study of a family with dental anomalies. Material and methods: We studied a Chilean family presenting with three ...
    • Genética del cáncer del colon 
      Passalacqua H., Cristóbal; Castillo Taucher, Silvia; Aravena Cerda, Teresa (Hospital Clínico Universidad de Chile, 2010)
      Colon cancer (CC) is a prevalent disease, with 800,000 new cases annually worldwide. In Chile the mortality is 6.2 per 100,000 inhabitants, which has increased in recent years, being more common in developed countries. ...
    • Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations ... 
      Royer Bertrand, Beryl; Castillo Taucher, Silvia; Moreno Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos Xavier, Belinda; Girardi, Enrico; Superti Furga, Giulio; Bonafe, Luis; Rivolta, Carlo; Unger, Sheila; Superti Furga, Andrea (Nature Publishing, 2015)
      We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we ...