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-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.
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-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-2021 Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement Vaisfeld, A.; Bruno, G.; Petracca, M.; Bentivoglio, A. R.; Servidei, S.; Vita, M. G.; Bove, F.; Straccia, G.; Dato, C.; Di Iorio, G.; Sampaolo, S.; Peluso, S.; De Rosa, A.; De Michele, G.; Barghigiani, M.; Galatolo, D.; Tessa, A.; Santorelli, F.; Chiurazzi, P.; Melone, M. A. B.
1-gen-2021 Study of the effects of Lemna minor extracts on human immune cell populations Catelani Cardoso, C.; Miraldi, E.; Ceccarini, M. R.; Naureen, Z.; Baini, G.; Manara, E.; Anpilogov, K.; Camilleri, G.; Dhuli, K.; Paolacci, S.; Ria, F.; Di Sante, G.; Camponeschi, C.; Tredicine, M.; Zanlari, A.; Chiurazzi, P.; Beccari, T.; Bertelli, M.
1-gen-2021 USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies Falsini, Benedetto; Placidi, Giorgio; De Siena, Elisa; Savastano, Maria Cristina; Minnella, Angelo Maria; Maceroni, Martina; Midena, Giulia; Ziccardi, Lucia; Parisi, Vincenzo; Bertelli, Matteo; Maltese, Paolo Enrico; Chiurazzi, Pietro; Rizzo, Stanislao
1-gen-2021 Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants Grippaudo, C.; D'Apolito, I.; Cafiero, C.; Re, A.; Chiurazzi, P.; Frazier-Bowers, S. A.
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-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-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-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.
1-gen-2020 Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 Nicoletti, T.; Chiurazzi, P.; Castori, M.; Perna, A.; Silvestri, G.
1-gen-2020 NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence Porto, F. D.; Cifani, N.; Proietta, M.; Verrecchia, E.; Rosa, R. D.; Manna, R.; Chiurazzi, P.
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-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-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
1-gen-2020 Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P.
1-gen-2019 PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics Marceddu, G; Dallavilla, T; Guerri, G; Manara, E; Chiurazzi, P; Bertelli, M
1-gen-2016 Advances in understanding - genetic basis of intellectual disability Chiurazzi, Pietro; Pirozzi, Filomena
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.