Chiurazzi, Pietro
Dettaglio
Chiurazzi, Pietro
ROMA - Dipartimento di Scienze della vita e sanità pubblica
Pubblicazioni
Risultati 1 - 20 di 45 (tempo di esecuzione: 0.0 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
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1 | 2008 | A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the Attention Deficit Hyperactivity Disorder in Fragile X Syndrome boys | Neri, Giovanni; Tabolacci, Elisabetta; Chiurazzi, Pietro | - |
2 | 2008 | A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys | Torrioli, Maria Giulia; Vernacotola, Silvia; Peruzzi, Laura; Tabolacci, Elisabetta; Mila, M; Militerni, R; Musumeci, Sebastiano; Ramos, Fj; Frontera, M; Sorge, G; Marzullo, E; Romeo, G; Vallee, L; Veneselli, E; Cocchi, E; Garbarino, E; Moscato, Umberto; Chiurazzi, Pietro; D'Iddio, Silvia; Calvani, Menotti; Neri, Giovanni | - |
3 | 2008 | A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy | Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni | - |
4 | 2016 | Advances in understanding - genetic basis of intellectual disability | Chiurazzi, Pietro; Pirozzi, Filomena | Open Access |
5 | 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. | - |
6 | 2004 | Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome | Chiurazzi, Pietro; Bajer, Jolanta Alina; Tabolacci, Elisabetta; Pomponi, Maria Grazia; Lecce, Rosetta; Zollino, Marcella; Neri, Giovanni | - |
7 | 2020 | Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses | Dallavilla, T.; Bertelli, M.; Morresi, A.; Bushati, V.; Stuppia, L.; Beccari, T.; Chiurazzi, P.; Marceddu, G. | - |
8 | 2012 | Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression | Bongiovanni, Luca; Pirozzi, Filomena; Guidi, Francesco; Orsini, Massimiliano; Chiurazzi, Pietro; Bassi, Pierfrancesco; Racioppi, Marco | - |
9 | 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 |
10 | 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. | - |
11 | 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. | - |
12 | 2020 | Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia | Santoro, M.; Perna, A.; La Rosa, P.; Petrillo, S.; Piemonte, F.; Rossi, S.; Riso, V.; Nicoletti, T. F.; Modoni, A.; Pomponi, M. G.; Chiurazzi, P.; Silvestri, G. | - |
13 | 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 | - |
14 | 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 | - |
15 | 2008 | Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. | Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni | - |
16 | 2013 | Epigenetics, fragile X syndrome and transcriptional therapy. | Tabolacci, Elisabetta; Chiurazzi, Pietro | - |
17 | 2022 | Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy | Falsini, B.; Placidi, G.; De Siena, E.; Chiurazzi, P.; Minnella, A. M.; Savastano, M. C.; Ziccardi, L.; Parisi, V.; Iarossi, G.; Percio, M.; Pitekova, B.; Marceddu, G.; Maltese, P. E.; Bertelli, M. | Open Access |
18 | 2019 | Genetics of lipedema: new perspectives on genetic research and molecular diagnoses | Paolacci, S; Precone, V; Acquaviva, F; Chiurazzi, P; Fulcheri, E; Pinelli, M; Buffelli, F; Michelini, S; Herbst, Kl; Unfer, V; Bertelli, M | - |
19 | 2011 | Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family | Pirozzi, Filomena; Di Raimo, Francesca Romana; Zanni, G; Bertini, E; Billuart, P; Tartaglione, Tommaso; Tabolacci, Elisabetta; Brancaccio, Andrea; Neri, Giovanni; Chiurazzi, Pietro | - |
20 | 2020 | Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 | Pastorino, L; Andreotti, V; Dalmasso, B; Vanni, I; Ciccarese, G; Mandalà, M; Spadola, G; Pizzichetta, Ma; Ponti, G; Tibiletti, Mg; Sala, E; Genuardi, M; Chiurazzi, P; Maccanti, G; Manoukian, S; Sestini, S; Danesi, R; Zampiga, V; La Starza, R; Stanganelli, I; Ballestrero, A; Mastracci, L; Grillo, F; Sciallero, S; Cecchi, F; Tanda, Et; Spagnolo, F; Queirolo, P; Italian Melanoma Intergroup, (IMI); Goldstein, Am; Bruno, W; Ghiorzo, P. | - |