IRIS PubliCatt

Neri, Giovanni

Neri, Giovanni  

Mostra records
Risultati 1 - 20 di 149 (tempo di esecuzione: 0.025 secondi).
Data di pubblicazione Titolo Autore(i) File
1-gen-2024 Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders Grandi, Martina; Galber, Chiara; Gatto, Cristina; Nobile, Veronica; Pucci, Cecilia; Schaldemose Nielsen, Ida; Boldrin, Francesco; Neri, Giovanni; Chiurazzi, Pietro; Solaini, Giancarlo; Baracca, Alessandra; Giorgio, Valentina; Tabolacci, Elisabetta
1-gen-2022 Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype Lo Vecchio, Filomena; Tabolacci, Elisabetta; Nobile, Veronica; Pomponi, M. G.; Pietrobono, R.; Neri, Giovanni; Amenta, Simona; Candida, E.; Grippaudo, Cristina; Lo Cascio, Ettore; Vita, Alessia; Tiberio, Federica; Arcovito, Alessandro; Lattanzi, Wanda; Genuardi, Maurizio; Chiurazzi, Pietro
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, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
1-gen-2021 DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome Nobile, Veronica; Pucci, Cecilia; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
1-gen-2020 DNA Methylation in the Diagnosis of Monogenic Diseases. Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; Riccio, A.
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-2017 ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, Giovanni; Gurrieri, Fiorella; Angelini, C
1-gen-2017 Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2017 “Minimal” holoprosencephaly in a 14q deletion syndrome patient Della Giustina, Elvio; Iodice, Alessandro; Spagnoli, Carlotta; Giovannini, Simona; Frattini, Daniele; Fusco, Carlo; Gobbi, Giuseppe; Zollino, Marcella; Neri, Giovanni
1-gen-2016 A girl with a 14.7 Mb 3q26.32-q28 duplication: A new report of 3q duplication syndrome and a literature review Pavone, Piero; Praticò, Andrea D.; Falsaperla, Raffaele; Ruggieri, Martino; Neri, Giovanni; Pavone, Vito; Zollino, Marcella
1-gen-2016 CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations Brykczynska, Urszula; Pecho Vrieseling, Eline; Thiemeyer, Anke; Klein, Jessica; Fruh, Isabelle; Doll, Thierry; Manneville, Carole; Fuchs, Sascha; Iazeolla, Mariavittoria; Beibel, Martin; Roma, Guglielmo; Naumann, Ulrike; Kelley, Nicholas; Oakeley, Edward J.; Mueller, Matthias; Gomez Mancilla, Baltazar; Bühler, Marc; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; Bouwmeester, Tewis; Di Giorgio, Francesco Paolo; Fodor, Barna D.
1-gen-2016 Defining the role of the CGGBP1 protein in FMR1 gene expression Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C.; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V.; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells Tabolacci, Elisabetta; Mancano, Giorgia; Lanni, Stella; Palumbo, Federica; Goracci, Martina; Ferrè, Fabrizio; Helmer Citterich, Manuela; Neri, Giovanni
1-gen-2016 Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome Jiraanont, P.; Hagerman, R. J.; Neri, Giovanni; Zollino, Marcella; Murdolo, Marina; Tassone, Francesco
1-gen-2016 Recognizable facial features in patients with alternating hemiplegia of childhood. Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni
1-gen-2016 Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D.
1-gen-2016 Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome Tabolacci, Elisabetta; Palumbo, Federica; Nobile, Veronica; Neri, Giovanni
1-gen-2016 Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects La Carpia, Francesca; Rendeli, Claudia; Clelia, Molinario; Milillo, Annamaria; Farroni, Chiara; Cannelli, Natalia; Ausili, Emanuele; Paolucci, Valentina; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella