From Pituitary Stem Cell Differentiation to Regenerative Medicine

por Camilletti, Maria Andrea, Martinez Mayer, Julian, Vishnopolska, Sebastian A., Perez-Millan, Maria Ines
Publicado 2021

Genetics and genomic medicine in Argentina

por Vishnopolska, Sebastián A., Turjanski, Adrián G., Herrera Piñero, Mariana, Groisman, Boris, Liascovich, Rosa, Chiesa, Ana, Marti, Marcelo A.
Publicado 2018

VarQ: A Tool for the Structural and Functional Analysis of Human Protein Variants

por Radusky, Leandro, Modenutti, Carlos, Delgado, Javier, Bustamante, Juan P., Vishnopolska, Sebastian, Kiel, Christina, Serrano, Luis, Marti, Marcelo, Turjanski, Adrián
Publicado 2018

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

por González-Morón, Dolores, Vishnopolska, Sebastián, Consalvo, Damián, Medina, Nancy, Marti, Marcelo, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Claverie, Santiago, Rodríguez-Quiroga, Sergio Alejandro, Vega, Patricia, Silva, Walter, Kochen, Silvia, Kauffman, Marcelo Andrés
Publicado 2017

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 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 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 2018

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 2020

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing

por Vishnopolska, Sebastian, Mercogliano, María Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan Pablo, Marti, Marcelo, Kitzman, Jacob, Camper, Sally Ann, Perez-Millan, Maria Ines
Publicado 2021

COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity

por Erra, Lorenzo, Uriarte, Ignacio, Colado, Ana, Paolini, María Virginia, Seminario, Gisela, Fernández, Julieta Belén, Tau, Lorena, Bernatowiez, Juliana, Moreira, Ileana, Vishnopolska, Sebastián, Rumbo, Martín, Cassarino, Chiara, Vijoditz, Gustavo, López, Ana Laura, Curciarello, Renata, Rodríguez, Diego, Rizzo, Gastón, Ferreyra, Malena, Ferreyra Mufarregue, Leila Romina, Badano, María Noel, Pérez Millán, María Inés, Quiroga, María Florencia, Baré, Patricia, Ibañez, Itatí, Pozner, Roberto, Borge, Mercedes, Docena, Guillermo, Bezrodnik, Liliana, Almejun, María Belén
Publicado 2022

THU159 Identifying Causative Genes For Pituitary Hormone Deficiencies

por Mayer, Julian Martinez, Hackbartt, Martina, Garcia, Lucia Iglesias, Vishnopolska, Sebastian, Zaiat, Jonathan, Perticarari, Catalina, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Forclaz, Veronica, Benzrihen, Maria Gabriela, D´Amato, Silvia, Rojas, Gabriela Patricia, Miras, Mirta, Alejandra, Paez Nuñez, Castro, Laura, Alonso, Guillermo Francisco, Gil, Susana Mallea, Ballarino, Carolina, Latorre Villacorta, Laura Viviana, Figueroa, Verónica, Morin, Analia, Guntsche, Zelmira, Lee, Hane, Lee, Eugene, Song, Yongjun, Hyun, Seong-In, Marti, Marcelo, Perez-Millan, Maria Ines
Publicado 2023