Now showing items 1-2 of 2

    • 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 ...
    • Risk factors associated with invasive fungal disease in children with cancer and febrile neutropenia: a prospective multicenter evaluation 

      Villarroel, Milena; Avilés, Carmen L.; Silva, Pamela; Guzmán, Ana M.; Poggi, Helena; Álvarez, Ana M.; Becker, Ana; O'Ryan Gallardo, Miguel; Salgado, Carmen; Topelberg, Santiago; Tordecilla, Juan; Varas, Mónica; Viviani, Tamara; Zubieta, Marcela; Santolaya, María E. (Lippincott Williams and Wilkins, 2010)
      Background: Empiric antifungal treatment has become standard of care in children with cancer and prolonged fever and febrile neutropenia (FN), with the downside that it leads to significant over treatment. We characterized ...