Browsing by Author "Martinez-Aguayo, A."
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- ItemA deletion of more than 800 kb is the most recurrent mutation in chilean patients with SHOX gene defects(2015) Poggi, Helena; Vera, A.; Avalos, C.; Lagos, M.; Mellado Sagredo, Cecilia; Aracena Álvarez, Mariana Inés; Aravena, T.; García Bruce, Hernán; Godoy Cortés, Claudia Loreto; Cattani Ortega, Andreina; Reyes, L.; Lacourt, P.; Rumié Carmi, Hana K.; Mericq, V.; Arriaza, M.; Martinez-Aguayo, A.
- ItemMutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis(2019) Gregory, L.C.; Shah, P.; Sanner, J.R.F.; Arancibia, M.; Hurst, J.; Jones, W.D.; Spoudeas, H.; Stabej, P.L.; Williams, H.J.; Ocaka, L.A.; Loureiro Pérez, Carolina Andrea; Martinez-Aguayo, A.; Dattani, M.T.
- ItemTesticular adrenal rest tumors and Leydig and sertoli cell function in boys with classical congenital adrenal hyperplasia(2007) Martinez-Aguayo, A.; Rocha, A.; Rojas, N.; Garcia, C.; Parra, R.; Lagos, M.; Valdivia, L.; Poggi, H.; Cattani, A.Context: Infertility observed in adult males with congenital adrenal hyperplasia ( CAH) has been associated with testicular adrenal rest tumors ( TART) that may originate during childhood.