Nobile, Veronica
Nobile, Veronica
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021-01-01 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021-01-01 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
2021-01-01 Tabolacci, E; Molinario, C; Marangi, G; Nobile, V; Arena, V; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, M; Costa, S; Vento, G; Genuardi, M.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
2020-01-01 Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
2020-01-01 Tabolacci, E.; Molinario, C.; Marangi, G.; Nobile, V.; Arena, V.; Mendes, M. I.; Smith, D. E. C.; Salomons, G. S.; Tana, M.; Costa, S.; Vento, G.; Genuardi, M.
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
2020-01-01 Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
2020-01-01 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2021 | Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis | Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M. | |
| 1-gen-2021 | Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis | Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M. | |
| 1-gen-2021 | Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Tabolacci, E; Molinario, C; Marangi, G; Nobile, V; Arena, V; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, M; Costa, S; Vento, G; Genuardi, M. | |
| 1-gen-2020 | Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene | Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E. | |
| 1-gen-2020 | Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Tabolacci, E.; Molinario, C.; Marangi, G.; Nobile, V.; Arena, V.; Mendes, M. I.; Smith, D. E. C.; Salomons, G. S.; Tana, M.; Costa, S.; Vento, G.; Genuardi, M. | |
| 1-gen-2020 | Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families | Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro | |
| 1-gen-2020 | Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation | Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P. |