Esposito G - Search Results

1

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S. Karali M, et al. Among authors: esposito g. Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. Sci Rep. 2022. PMID: 36460718 Free PMC article.

2

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F. Esposito G, et al. Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21905166

3

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. 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.

4

ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.

Di Iorio V, Orrico A, Esposito G, Melillo P, Rossi S, Sbordone S, Auricchio A, Testa F, Simonelli F. Di Iorio V, et al. Among authors: esposito g. Retina. 2019 Jul;39(7):1399-1409. doi: 10.1097/IAE.0000000000002151. Retina. 2019. PMID: 29642238

5

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: esposito g. Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1547-1555. doi: 10.1167/iovs.18-25501. Invest Ophthalmol Vis Sci. 2019. PMID: 30995293

6

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. Among authors: esposito g. Genes (Basel). 2021 Jul 22;12(8):1111. doi: 10.3390/genes12081111. Genes (Basel). 2021. PMID: 34440285 Free PMC article.

7

Phosphoproteomic analysis sheds light on intracellular signaling cascades triggered by Formyl-Peptide Receptor 2.

Cattaneo F, Russo R, Castaldo M, Chambery A, Zollo C, Esposito G, Pedone PV, Ammendola R. Cattaneo F, et al. Among authors: esposito g. Sci Rep. 2019 Nov 29;9(1):17894. doi: 10.1038/s41598-019-54502-6. Sci Rep. 2019. PMID: 31784636 Free PMC article.

8

Prioritization of putatively detrimental variants in euploid miscarriages.

Buonaiuto S, Biase ID, Aleotti V, Ravaei A, Marino A, Damaggio G, Chierici M, Pulijala M, D'Ambrosio P, Esposito G, Ayub Q, Furlanello C, Greco P, Capalbo A, Rubini M, Biase SD, Colonna V. Buonaiuto S, et al. Among authors: esposito g. Sci Rep. 2022 Feb 7;12(1):1997. doi: 10.1038/s41598-022-05737-3. Sci Rep. 2022. PMID: 35132093 Free PMC article.

9

A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort.

Carsana A, Frisso G, Intrieri M, Tremolaterra MR, Savarese G, Scapagnini G, Esposito G, Santoro L, Salvatore F. Carsana A, et al. Among authors: esposito g. Front Biosci (Elite Ed). 2010 Jan 1;2(2):547-58. doi: 10.2741/e113. Front Biosci (Elite Ed). 2010. PMID: 20036901 Free article.

10

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. Among authors: esposito g. Diagnostics (Basel). 2020 Nov 24;10(12):995. doi: 10.3390/diagnostics10120995. Diagnostics (Basel). 2020. PMID: 33255364 Free PMC article.

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