Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

68 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
D'Esposito F, Randazzo V, Cennamo G, Centore N, Maltese PE, Malesci R, D'Andrea L, Bertelli M, Marciano E, de Crecchio G, Pioppo A, Magli A, Cordeiro MF. D'Esposito F, et al. Eur J Ophthalmol. 2021 Mar;31(2):NP18-NP22. doi: 10.1177/1120672119879392. Epub 2019 Sep 30. Eur J Ophthalmol. 2021. PMID: 31566003
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V, Iarossi G, Salvetti AP, Maltese PE, Delledonne G, Oldani M, Staurenghi G, Falsini B, Minnella AM, Ziccardi L, Magli A, Colombo L, D'Esposito F, Miertus J, Viola F, Attanasio M, Maggio E, Bertelli M. Frecer V, et al. J Transl Med. 2019 Oct 1;17(1):330. doi: 10.1186/s12967-019-2080-3. J Transl Med. 2019. PMID: 31570112 Free PMC article.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Bonetti G, et al. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. Int J Mol Sci. 2023. PMID: 38069202 Free PMC article.
Autoantibodies detection in patients affected by autoimmune retinopathies.
Ceccarini MR, Medori MC, Dhuli K, Tezzele S, Bonetti G, Micheletti C, Maltese PE, Cecchin S, Donato K, Colombo L, Rossetti L, Staurenghi G, Salvetti AP, Oldani M, Ziccardi L, Marangoni D, Iarossi G, Falsini B, Placidi G, D'Esposito F, Viola F, Nassisi M, Leone G, Cimino L, De Simone L, Mastrofilippo V, Beccari T, Bertelli M. Ceccarini MR, et al. Eur Rev Med Pharmacol Sci. 2023 Dec;27(6 Suppl):57-63. doi: 10.26355/eurrev_202312_34690. Eur Rev Med Pharmacol Sci. 2023. Retraction in: Eur Rev Med Pharmacol Sci. 2024 May;28(9):3293. doi: 10.26355/eurrev_202405_36203 PMID: 38112948 Free article. Retracted.
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. Medicina (Kaunas). 2024 Feb 1;60(2):254. doi: 10.3390/medicina60020254. Medicina (Kaunas). 2024. PMID: 38399542 Free PMC article.
68 results