Browsing by Author "Mellado, Cecilia"

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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 ...
    • Prevalence of microcephaly: the Latin American network of congenital malformations 2010–2017 
      Morris, Joan; Orioli, Leda M; Benavides Lara, Adriana; Barboza Arguello, María de la Paz; Canessa Tapia, María Aurora De Lourdes; Araújo de França, Giovanny Vinícius; Groisman, Boris; Holguín, Jorge; Hurtado Villa, Paula Margarita; Ibarra Ramírez, Marisol; Mellado, Cecilia; Pardo Vargas, Rosa Andrea; Pastora Bucardo, Dania María; Rodríguez, Catherin; Zarante, Ignacio; Limb, Elizabeth; Dolk, Helen (BMJ, 2021)
      Objective The Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence ...