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Mostrati risultati da 21 a 40 di 59
Data di pubblicazione Titolo Autore(i) File
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, Tommaso Filippo; Modoni, Anna; Pomponi, M. G.; Chiurazzi, Pietro; Silvestri, Gabriella
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 PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics Marceddu, G; Dallavilla, T; Guerri, G; Manara, E; Chiurazzi, Pietro; Bertelli, M
1-gen-2019 Genetics of lipedema: new perspectives on genetic research and molecular diagnoses Paolacci, S; Precone, V; Acquaviva, F; Chiurazzi, Pietro; Fulcheri, E; Pinelli, M; Buffelli, F; Michelini, S; Herbst, Kl; Unfer, V; Bertelli, M
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-2016 Advances in understanding - genetic basis of intellectual disability Chiurazzi, Pietro; Pirozzi, Filomena
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-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-2016 Rho kinase inhibition is essential during in vitro neurogenesis and promotes phenotypic rescue of human induced pluripotent stem cell-derived neurons with oligophrenin-1 loss of function Compagnucci, Claudia; Barresi, Sabina; Petrini, Stefania; Billuart, Pierre; Piccini, Giorgia; Chiurazzi, Pietro; Alfieri, Paolo; Bertini, Enrico; Zanni, Ginevra
1-gen-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, Pietro; 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, Giovanni; Holloway, L.; Skinner, C.; Stevenson, R. E.; Dorsky, R. I.; Wang, T.; Schwartz, C. E.; Kim, C. -H.
1-gen-2014 Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Chiurazzi, Pietro
1-gen-2013 Role of CTCF protein in regulating FMR1 locus transcription. Lanni, Stella; Goracci, Martina; Borrelli, Loredana; Mancano, Giorgia; Chiurazzi, Pietro; Moscato, Umberto; Ferre', Fabrizio; Helmer_citterich, Manuela; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2013 Epigenetics, fragile X syndrome and transcriptional therapy. Tabolacci, Elisabetta; Chiurazzi, Pietro
1-gen-2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Domenica Immacolata; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe
1-gen-2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario
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-2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. Redin, C; Le Gras, S.; Mhamdi, O; Geoffroy, V; Stoetzel, C; Vincent, Mc; Chiurazzi, Pietro; Lacombe, D; Ouertani, I; Petit, F; Till, M; Verloes, A; Jost, B; Chaabouni, Hb; Dollfus, H; Mandel, Jl; Muller, J.
1-gen-2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria Marangi, Giuseppe; Ricciardi, Stefania; Orteschi, Daniela; Lattante, Serena; Murdolo, Marina; Dallapiccola, B; Biscione, Chiara; Lecce, Rosetta; Chiurazzi, Pietro; Romano, C; Greco, D; Pettinato, R; Sorge, G; Pantaleoni, C; Alfei, E; Toldo, I; Magnani, C; Bonanni, P; Martinez, F; Serra, G; Battaglia, Domenica Immacolata; Lettori, Donatella; Vasco, Gessica; Baroncini, A; Daolio, C; Zollino, Marcella
1-gen-2011 Mental retardation: is naming the real issue? Chiurazzi, Pietro
Mostrati risultati da 21 a 40 di 59
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