IRIS PubliCatt

Neri, Giovanni

Neri, Giovanni  

Mostra records
Risultati 1 - 20 di 139 (tempo di esecuzione: 0.021 secondi).
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-2020 DNA Methylation in the Diagnosis of Monogenic Diseases. Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; 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, G; Gurrieri, F; Angelini, C
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-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-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-2015 Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, M; Zollino, Marcella; Corsello, G; Neri, Giovanni
1-gen-2015 Defining the role of the CGGBP1 protein in FMR1 gene expression. Tabolacci, Elisabetta; Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2015 Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. Tricarico, Rossella; Cortellino, Salvatore; Riccio, Antonio; Jagmohan Changur, Shantie; Van Der Klift, Helen; Wijnen, Juul; Turner, David; Ventura, Andrea; Rovella, Valentina; Percesepe, Antonio; Lucci Cordisco, Emanuela; Radice, Paolo; Bertario, Lucio; Pedroni, Monica; Ponz De Leon, Maurizio; Mancuso, Pietro; Devarajan, Karthik; Cai, Kathy; Klein Szanto, Andreas; Neri, Giovanni; Moller, Pal; Viel, Alessandra; Genuardi, Maurizio; Fodde, Riccardo; Bellacosa, Alfonso
1-gen-2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons May, M.; Hwang, K. -S.; Miles, J.; Williams, C.; Niranjan, T.; Kahler, S. G.; Chiurazzi, P.; Steindl, K.; Van Der Spek, P. J.; Swagemakers, S.; Mueller, J.; Stefl, S.; Alexov, E.; Ryu, J. -I.; Choi, J. -H.; Kim, H. -T.; Tarpey, P.; Neri, G.; Holloway, L.; Skinner, C.; Stevenson, R. E.; Dorsky, R. I.; Wang, T.; Schwartz, C. E.; Kim, C. -H.