Tiziana Fioretti

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

Gabriella Esposito, Francesco Testa, Miriam Zacchia et al. · BMC Medical Genetics · 2017 · 58 citations · Full text

Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells

Fabio Cattaneo, Melania Parisi, Tiziana Fioretti et al. · Archives of Biochemistry and Biophysics · 2016 · 33 citations

Signal Transduction, Medicine, Receptor (Biochemistry) +7

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

Gabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci et al. · Journal of Human Genetics · 2017 · 18 citations

Deletion Breakpoints, Dmd Gene, Genetics +9

<i>CHM/REP1</i> Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia

Valentina Di Iorio, Gabriella Esposito, Francesca De Falco et al. · Investigative Ophthalmology & Visual Science · 2019 · 16 citations · Full text

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

Tiziana Fioretti, Luigi Auricchio, Angelo Piccirillo et al. · Diagnostics · 2020 · 16 citations · Full text