Chiurazzi, Pietro
Chiurazzi, Pietro
ROMA - Dipartimento di Scienze della vita e sanità pubblica
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
2022-01-01 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.
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021-01-01 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.
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021-01-01 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.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
2021-01-01 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.
Study of the effects of Lemna minor extracts on human immune cell populations
2021-01-01 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.
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies
2021-01-01 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
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants
2021-01-01 Grippaudo, C.; D'Apolito, I.; Cafiero, C.; Re, A.; Chiurazzi, P.; Frazier-Bowers, S. A.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
2020-01-01 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.
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses
2020-01-01 Dallavilla, T.; Bertelli, M.; Morresi, A.; Bushati, V.; Stuppia, L.; Beccari, T.; Chiurazzi, P.; Marceddu, G.
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
2020-01-01 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.
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1
2020-01-01 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.
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2
2020-01-01 Nicoletti, T.; Chiurazzi, P.; Castori, M.; Perna, A.; Silvestri, G.
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence
2020-01-01 Porto, F. D.; Cifani, N.; Proietta, M.; Verrecchia, E.; Rosa, R. D.; Manna, R.; Chiurazzi, P.
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
2020-01-01 Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
2019-01-01 Grippaudo, Cristina; Cafiero, Concetta; D'Apolito, Isabella; Re, Agnese; Genuardi, Maurizio; Chiurazzi, Pietro; Frazier-Bowers, Sylvia A.
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses
2019-01-01 Paolacci, S; Precone, V; Acquaviva, F; Chiurazzi, P; Fulcheri, E; Pinelli, M; Buffelli, F; Michelini, S; Herbst, Kl; Unfer, V; Bertelli, M
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
2020-01-01 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P.
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics
2019-01-01 Marceddu, G; Dallavilla, T; Guerri, G; Manara, E; Chiurazzi, P; Bertelli, M
Advances in understanding - genetic basis of intellectual disability
2016-01-01 Chiurazzi, Pietro; Pirozzi, Filomena
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations
2016-01-01 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.
| 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. |