Showing 1 - 6 results of 6 for search 'Tiziana Fioretti', query time: 0.02s
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Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients by Tiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, Giuseppina Vitiello, Adelaide Ambrosio, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Published 2020-11-01
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Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates <i>HOXA9</i> Gene Expression in t(4;11) Leukemia Cells by Tiziana Fioretti, Armando Cevenini, Mariateresa Zanobio, Maddalena Raia, Daniela Sarnataro, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Published 2021-04-01
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Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of <i>CHM</i> Gene Transcription by Tiziana Fioretti, Valentina Di Iorio, Barbara Lombardo, Francesca De Falco, Armando Cevenini, Fabio Cattaneo, Francesco Testa, Lucio Pastore, Francesca Simonelli, Gabriella Esposito
Published 2021-07-01
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De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab by Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Published 2023-07-01
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<i>RP1</i> Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily by Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo
Published 2024-02-01
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