1. A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI). (February 2020) Authors: Ramírez, Laura; Sanguineti, Nora; Scaglia, Paula; Keselman, Ana; Ballerini, María Gabriela; Karabatas, Liliana; Landi, Estefanía; Castro, Julia; Domené, Sabina; Pennisi, Patricia; Jasper, Héctor; Rey, Rodolfo A.; Vázquez, Martín; Domené, Horacio; Bergadá, Ignacio; Gutiérrez, Mariana Journal: Growth hormone & IGF research Issue: Volume 50(2020) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations. (15th September 2018) Authors: Gutiérrez, Mariana; Scaglia, Paula; Keselman, Ana; Martucci, Lucía; Karabatas, Liliana; Domené, Sabina; Martin, Ayelen; Pennisi, Patricia; Blanco, Miguel; Sanguineti, Nora; Bezrodnik, Liliana; Di Giovanni, Daniela; Caldirola, María Soledad; Azcoiti, María Esnaola; Gaillard, María Isabel; Denson, ... Journal: Molecular and cellular endocrinology Issue: Volume 473(2018) Page Start: 166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗