PINTUS, Francesco
PINTUS, Francesco
NEUROSCIENZE "RITA LEVI MONTALCINI"
A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis
2024-01-01 S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco
CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects
2025-01-01 Chiara Leso, Lisa Pavinato, Antonietta Verrillo, Eleonora Campus , Elena Rita Vecchi, Andrea Angius, Vincenzo Rallo, Verdiana Pullano, Francesco Pintus, Alessandra Aulino, Giorgia Borgini, Alessia Albano, Luciano Conti, Valentina Proserpio, Giovanni Battista Ferrero, Arianna Baggiolini, Alfredo Brusco
Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs)
2023-01-01 Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco
Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists
2025-01-01 Pintus, Francesco; Giordano, Noemi; Giachino, Daniela Francesca; Mandrile, Giorgia
X-linked sideroblastic anaemia associated with beta thalassemia trait presenting with a peculiar chronic anaemia phenotype in a 47-years-old woman
2025-01-01 Francesco Pintus, Noemi Giordano, Carmen Maria Gaglioti, Irene Motta, Alfredo Brusco, Daniela Francesca Giachino, G.B. Ferrero, Giorgia Mandrile
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis | 2024 | S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco | |
| CAPRIN1 haploinsufficient cortical organoids help in identifying underlying neurodevelopmental defects | 2025 | Chiara Leso, Lisa Pavinato, Antonietta Verrillo, Eleonora Campus , Elena Rita Vecchi, Andrea Angius, Vincenzo Rallo, Verdiana Pullano, Francesco Pintus, Alessandra Aulino, Giorgia Borgini, Alessia Albano, Luciano Conti, Valentina Proserpio, Giovanni Battista Ferrero, Arianna Baggiolini, Alfredo Brusco | |
| Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs) | 2023 | Serena Rizzo, Slavica Trajkova, Antonina Rinninella, Francesco Pintus, Elena Sukarova-Angelovska, Dragica Nestorovska, Simona Cardaropoli, Lisa Pavinato, Verdiana Pullano, Chiara Giovenino, Silvia Carestiato, Silvia De Rubeis, Joseph Buxbaum, Paola Dimartino, Roberto D'Aurizio, Tommaso Pippucci, Alfredo Brusco | |
| Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists | 2025 | Pintus, Francesco; Giordano, Noemi; Giachino, Daniela Francesca; Mandrile, Giorgia | |
| X-linked sideroblastic anaemia associated with beta thalassemia trait presenting with a peculiar chronic anaemia phenotype in a 47-years-old woman | 2025 | Francesco Pintus, Noemi Giordano, Carmen Maria Gaglioti, Irene Motta, Alfredo Brusco, Daniela Francesca Giachino, G.B. Ferrero, Giorgia Mandrile |