Browsing by Author "XX676149"

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    • A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects 
      Poggi, Helena; Vera, Alejandra; Avalos, Carolina; Lagos, Marcela; Mellado, Cecilia; Aracena, Mariana; Aravena Cerda, Teresa; García, Hernán; Godoy, Claudio; Cattani, Andreína; Reyes, Loreto; Lacourt, Patricia; Rumie, Hana; Mericq, Verónica; Arriaza, Marta; Martinez Aguayo, Alejandro (Karger, 2015)
      Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. Aim: To describe the molecular and ...
    • 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. ...