A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

por Fioretti, Tiziana, Ungari, Silvana, Savarese, Maria, Cattaneo, Fabio, Pirozzi, Enza, Esposito, Gabriella
Publicado 2020

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

por Fioretti, Tiziana, Auricchio, Luigi, Piccirillo, Angelo, Vitiello, Giuseppina, Ambrosio, Adelaide, Cattaneo, Fabio, Ammendola, Rosario, Esposito, Gabriella
Publicado 2020

Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells

por Fioretti, Tiziana, Cevenini, Armando, Zanobio, Mariateresa, Raia, Maddalena, Sarnataro, Daniela, Cattaneo, Fabio, Ammendola, Rosario, Esposito, Gabriella
Publicado 2021

MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells

por Fioretti, Tiziana, Zanobio, Mariateresa, Raia, Maddalena, Errichiello, Santa, Izzo, Barbara, Cattaneo, Fabio, Ammendola, Rosario, Cevenini, Armando, Esposito, Gabriella
Publicado 2022

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription

por Fioretti, Tiziana, Di Iorio, Valentina, Lombardo, Barbara, De Falco, Francesca, Cevenini, Armando, Cattaneo, Fabio, Testa, Francesco, Pastore, Lucio, Simonelli, Francesca, Esposito, Gabriella
Publicado 2021

De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab

por Pecoraro, Carmine, Fioretti, Tiziana, Perruno, Assunta, Klain, Antonella, Cioffi, Daniela, Ambrosio, Adelaide, Passaro, Diego, Annicchiarico Petruzzelli, Luigi, Di Domenico, Carmela, de Girolamo, Domenico, Vallone, Sabrina, Cattaneo, Fabio, Ammendola, Rosario, Esposito, Gabriella
Publicado 2023

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic s...

por Esposito, Gabriella, Testa, Francesco, Zacchia, Miriam, Crispo, Anna Alessia, Di Iorio, Valentina, Capolongo, Giovanna, Rinaldi, Luca, D’Antonio, Marcella, Fioretti, Tiziana, Iadicicco, Pasquale, Rossi, Settimio, Franzè, Annamaria, Marciano, Elio, Capasso, Giovanbattista, Simonelli, Francesca, Salvatore, Francesco
Publicado 2017