Neri, Giovanni
Dettaglio
Pubblicazioni
Risultati 1 - 20 di 137 (tempo di esecuzione: 0.001 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
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1 | 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. | Open Access |
2 | 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 | - |
3 | 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 | - |
4 | 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 | - |
5 | 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 | - |
6 | 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 | - |
7 | 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. | Open Access |
8 | 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 | - |
9 | 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 | - |
10 | 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 | - |
11 | 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 | Open Access |
12 | 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 | - |
13 | 2016 | Recognizable facial features in patients with alternating hemiplegia of childhood. | Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni | - |
14 | 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. | - |
15 | 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 | Open Access |
16 | 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 | - |
17 | 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 | - |
18 | 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 | - |
19 | 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. | - |
20 | 2013 | Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients | Giovannini, S; Marangio, L; Fusco, C; Scarano, A; Frattini, D; Della Giustina, E; Zollino, Marcella; Neri, Giovanni; Gobbi, G. | - |