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Chiurazzi, Pietro

Chiurazzi, Pietro  

ROMA - Dipartimento di Scienze della vita e sanità pubblica  

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Data di pubblicazione Titolo Autore(i) File
1-gen-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
1-gen-2007 A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability Zalfa, Francesca; Eleuteri, Boris; S Dickson, Kirsten; Mercaldo, Valentina; De Rubeis, Silvia; di Penta, Alessandra; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; N Grant, Seth G; Bagni, Claudia
1-gen-2019 A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report Grippaudo, Cristina; Cafiero, Concetta; D'Apolito, Isabella; Re, Agnese; Genuardi, Maurizio; Chiurazzi, Pietro; Frazier-Bowers, Sylvia A.
1-gen-2006 A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family Tabolacci, Elisabetta; Grazia Pomponi, M; Pietrobono, Roberta; Terracciano, Alessandra; Chiurazzi, Pietro; Neri, Giovanni
1-gen-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
1-gen-2016 Advances in understanding - genetic basis of intellectual disability Chiurazzi, Pietro; Pirozzi, Filomena
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-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
1-gen-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.
1-gen-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
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-2023 Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis Rossi, Salvatore; Concolino, Paola; Di Natale, Daniele; Pasquetti, Domizia; Di Lella, Giuseppe Maria; Chiurazzi, Pietro; Silvestri, Gabriella
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 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
1-gen-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.
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-1995 DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL Genuardi, M; Bardoni, B; Floridia, G; Chiurazzi, P; Scarano, G; Zollino, M; Garcea, N; Martinineri, M; Neri, G
1-gen-2005 Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments Tabolacci, Elisabetta; Pietrobono, Roberta; Moscato, Umberto; A Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni
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-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