MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos

Por Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina
Publicado no J Endocr Soc (2020)

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern

Por Sanguineti, Nora, Scaglia, Paula, Braslavsky, Debora, Keselman, Ana, Ballerini, Maria, Ropelato, Maria, Suco, Sofia, Kitzman, Jacob, Vishnopolska, Sebastian, Marti, Marcelo, Domene, Horacio, Rey, Rodolfo, Perez-Millan, Maria, Camper, Sally, Bergadá, Ignacio
Publicado no J Endocr Soc (2019)

MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel...

Por Vishnopolska, Sebastian, Mortensen, Amanda, Braslavsky, Debora, Keselman, Ana, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Ciaccio, Marta, Di Palma, María, Belgorosky, Alicia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally, Perez Millan, Maria
Publicado no J Endocr Soc (2019)

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Por Pérez Millán, María I., Vishnopolska, Sebastian A., Daly, Alexandre Z., Bustamante, Juan P., Seilicovich, Adriana, Bergadá, Ignacio, Braslavsky, Débora, Keselman, Ana C., Lemons, Rosemary M., Mortensen, Amanda H., Marti, Marcelo A., Camper, Sally A., Kitzman, Jacob O.
Publicado no Mol Genet Genomic Med (2018)

p.R209H GH1 variant challenges short stature assessment

Por Sanguineti, Nora, Braslavsky, Debora, Scaglia, Paula A, Keselman, Ana, Ballerini, Maria G, Ropelato, Maria G, Suco, Sofia, Vishnopolska, Sebastian, Berenstein, Ariel J, Jasper, Héctor, Domené, Horacio M, Rey, Rodolfo A, Millán, Maria I Pérez, Camper, Sally A, Bergadá, Ignacio
Publicado no Growth Horm IGF Res (2019)

MON-717 Novel GLI2 Mutations Identified in Pediatric Patients with Combined Pituitary Hormone Deficiency: One Gene, Various Genotypes

Por Vishnopolska, Sebastian A, Braslavsky, Debora, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana M, Ramirez, Pablo C, Natalia, Perez Garrido, Ciaccio, Marta, Palma, María I Di, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan P, Mortensen, Amanda Helen, Martí, Marcelo A, Camper, Sally Ann, Kitzman, Jacob, Perez Millán, Maria I
Publicado no J Endocr Soc (2020)

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Por Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Giovanni, Daniela Di, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Jones, Nana-Hawa Yayah, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio
Publicado no Mol Cell Endocrinol (2018)