Browsing by Author "201-0490777"

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    • 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 ...