Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Martinez-Mayer, Julian, Brinkmeier, Michelle L, O'Connell, Sean P, Ukagwu, Arnold, Marti, Marcelo A, Miras, Mirta, Forclaz, Maria V, Benzrihen, Maria G, Cheung, Leonard Y M, Camper, Sally A, Ellsworth, Buffy S, Raetzman, Lori T, Pérez-Millán, Maria I, Davis, Shannon W
Published in Genome medicine (31.05.2024)
Published in Genome medicine (31.05.2024)
Get full text
Journal Article
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism
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.
Published in Molecular genetics & genomic medicine (01.07.2018)
Published in Molecular genetics & genomic medicine (01.07.2018)
Get full text
Journal Article
Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation
Calandra, Cristian R., Buda, Guadalupe, Vishnopolska, Sebastian A., Oliveri, Jaen, Olivieri, Federico A., Pérez Millán, María I., Biagioli, German, Miquelini, Luis A., Pellene, Alejandro L., Marti, Marcelo A.
Published in Parkinsonism & related disorders (01.04.2020)
Published in Parkinsonism & related disorders (01.04.2020)
Get full text
Journal Article
All Hormone-Producing Cell Types of the Pituitary Intermediate and Anterior Lobes Derive From Prop1-Expressing Progenitors
Davis, Shannon W, Keisler, Jessica L, Pérez-Millán, María I, Schade, Vanessa, Camper, Sally A
Published in Endocrinology (Philadelphia) (01.04.2016)
Published in Endocrinology (Philadelphia) (01.04.2016)
Get full text
Journal Article
p.R209H GH1 variant challenges short stature assessment
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., Pérez Millán, Maria I., Camper, Sally A., Bergadá, Ignacio
Published in Growth hormone & IGF research (01.02.2020)
Published in Growth hormone & IGF research (01.02.2020)
Get full text
Journal Article
PTTG expression in different experimental and human prolactinomas in relation to dopaminergic control of lactotropes
Cristina, Carolina, Díaz-Torga, Graciela S, Goya, Rodolfo G, Kakar, Sham S, Perez-Millán, María I, Passos, Vanessa Q, Giannella-Neto, Daniel, Bronstein, Marcello D, Becu-Villalobos, Damasia
Published in Molecular cancer (12.01.2007)
Published in Molecular cancer (12.01.2007)
Get full text
Journal Article
MON-717 Novel GLI2 Mutations Identified in Pediatric Patients with Combined Pituitary Hormone Deficiency: One Gene, Various Genotypes
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
Published in Journal of the Endocrine Society (08.05.2020)
Published in Journal of the Endocrine Society (08.05.2020)
Get full text
Journal Article
Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation
Calandra, Cristian R, Buda, Guadalupe, Vishnopolska, Sebastian A, Oliveri, Jaen, Olivieri, Federico A, Pérez Millán, María I, Biagioli, German, Miquelini, Luis A, Pellene, Alejandro L, Marti, Marcelo A
Published in Parkinsonism & related disorders (01.04.2020)
Published in Parkinsonism & related disorders (01.04.2020)
Get full text
Report