Genetics and genomic medicine in Argentina
Vishnopolska, Sebastián A., Turjanski, Adrián G., Herrera Piñero, Mariana, Groisman, Boris, Liascovich, Rosa, Chiesa, Ana, Marti, Marcelo A.
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
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings
Calandra, Cristian R., Mocarbel, Yamile, Vishnopolska, Sebastian A., Toneguzzo, Vanessa, Oliveri, Jaen, Cazado, Enrique Carlos, Biagioli, German, Turjanksi, Adrián G., Marti, Marcelo
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.03.2019)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.03.2019)
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
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Gergics, Peter, Smith, Cathy, Bando, Hironori, Jorge, Alexander A.L., Rockstroh-Lippold, Denise, Vishnopolska, Sebastian A., Castinetti, Frederic, Maksutova, Mariam, Carvalho, Luciani Renata Silveira, Hoppmann, Julia, Martínez Mayer, Julián, Albarel, Frédérique, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Martí, Marcelo A., Saveanu, Alexandru, Barlier, Anne, Abou Jamra, Rami, Guo, Michael H., Dauber, Andrew, Nakaguma, Marilena, Mendonca, Berenice B., Jayakody, Sajini N., Ozel, A. Bilge, Fang, Qing, Ma, Qianyi, Li, Jun Z., Brue, Thierry, Pérez Millán, María Ines, Arnhold, Ivo J.P., Pfaeffle, Roland, Kitzman, Jacob O., Camper, Sally A.
Published in American journal of human genetics (05.08.2021)
Published in American journal of human genetics (05.08.2021)
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
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings
Calandra, Cristian R, Mocarbel, Yamile, Vishnopolska, Sebastian A, Toneguzzo, Vanessa, Oliveri, Jaen, Cazado, Enrique Carlos, Biagioli, German, Turjanksi, Adrián G, Marti, Marcelo
Published in Movement disorders clinical practice (01.03.2019)
Published in Movement disorders clinical practice (01.03.2019)
Get full text
Report