Fioretti T - Search Results

1

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

D'Esposito F, Randazzo V, Vega MI, Esposito G, Maltese PE, Torregrossa S, Scibetta P, Listì F, Gagliano C, Scalia L, Pioppo A, Marino A, Piergentili M, Malvone E, Fioretti T, Vitrano A, Piccione M, Avitabile T, Salvatore F, Bertelli M, Costagliola C, Cordeiro MF, Maggio A, D'Alcamo E. D'Esposito F, et al. Among authors: fioretti t. Medicina (Kaunas). 2024 Feb 1;60(2):254. doi: 10.3390/medicina60020254. Medicina (Kaunas). 2024. PMID: 38399542 Free PMC article.

2

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Di Iorio V, Esposito G, De Falco F, Boccia R, Fioretti T, Colucci R, De Rosa G, Melillo P, Salvatore F, Simonelli F, Testa F. Di Iorio V, et al. Among authors: fioretti t. Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1547-1555. doi: 10.1167/iovs.18-25501. Invest Ophthalmol Vis Sci. 2019. PMID: 30995293

3

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

Fioretti T, Auricchio L, Piccirillo A, Vitiello G, Ambrosio A, Cattaneo F, Ammendola R, Esposito G. Fioretti T, et al. Diagnostics (Basel). 2020 Nov 24;10(12):995. doi: 10.3390/diagnostics10120995. Diagnostics (Basel). 2020. PMID: 33255364 Free PMC article.

4

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.

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F. Esposito G, et al. Among authors: fioretti t. BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0. BMC Med Genet. 2017. PMID: 28143435 Free PMC article.

5

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

Fioretti T, Ungari S, Savarese M, Cattaneo F, Pirozzi E, Esposito G. Fioretti T, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1490. doi: 10.1002/mgg3.1490. Epub 2020 Sep 19. Mol Genet Genomic Med. 2020. PMID: 32949230 Free PMC article.

6

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.

De Leonibus C, Lembo C, Santantonio A, Fioretti T, Rojo S, Salvatore F, De Vivo M, Esposito G, Giliberti P. De Leonibus C, et al. Among authors: fioretti t. J Dermatol Case Rep. 2015 Jun 30;9(2):49-51. doi: 10.3315/jdcr.2015.1202. eCollection 2015 Jun 30. J Dermatol Case Rep. 2015. PMID: 26236414 Free PMC article.

7

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

Esposito G, Tremolaterra MR, Marsocci E, Tandurella IC, Fioretti T, Savarese M, Carsana A. Esposito G, et al. Among authors: fioretti t. J Hum Genet. 2017 Dec;62(12):1057-1063. doi: 10.1038/jhg.2017.84. Epub 2017 Sep 7. J Hum Genet. 2017. PMID: 28878337

8

Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation.

Fioretti T, Cevenini A, Zanobio M, Raia M, Sarnataro D, Salvatore F, Esposito G. Fioretti T, et al. Cell Oncol (Dordr). 2019 Dec;42(6):829-845. doi: 10.1007/s13402-019-00468-6. Epub 2019 Sep 6. Cell Oncol (Dordr). 2019. PMID: 31493143

9

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

Fioretti T, Di Iorio V, Lombardo B, De Falco F, Cevenini A, Cattaneo F, Testa F, Pastore L, Simonelli F, Esposito G. Fioretti T, et al. Genes (Basel). 2021 Jul 22;12(8):1111. doi: 10.3390/genes12081111. Genes (Basel). 2021. PMID: 34440285 Free PMC article.

10

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

Pecoraro C, Fioretti T, Perruno A, Klain A, Cioffi D, Ambrosio A, Passaro D, Annicchiarico Petruzzelli L, Di Domenico C, de Girolamo D, Vallone S, Cattaneo F, Ammendola R, Esposito G. Pecoraro C, et al. Among authors: fioretti t. Diagnostics (Basel). 2023 Jul 31;13(15):2552. doi: 10.3390/diagnostics13152552. Diagnostics (Basel). 2023. PMID: 37568915 Free PMC article.

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