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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

252 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Zacchia M, Blanco FDV, Torella A, Raucci R, Blasio G, Onore ME, Marchese E, Trepiccione F, Vitagliano C, Iorio VD, Alessandra P, Simonelli F, Nigro V, Capasso G, Viggiano D. Zacchia M, et al. Among authors: simonelli f. Clin Kidney J. 2020 Dec 6;14(6):1545-1551. doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun. Clin Kidney J. 2020. PMID: 34084454 Free PMC article.
An atypical form of Bietti crystalline dystrophy.
Rossi S, Testa F, Li A, Iorio VD, Zhang J, Gesualdo C, Corte MD, Chan CC, Fielding Hejtmancik J, Simonelli F. Rossi S, et al. Among authors: simonelli f. Ophthalmic Genet. 2011 Jun;32(2):118-21. doi: 10.3109/13816810.2011.559653. Epub 2011 Mar 8. Ophthalmic Genet. 2011. PMID: 21385027 Free PMC article.
Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.
Zacchia M, Zacchia E, Zona E, Capolongo G, Raiola I, Rinaldi L, Trepiccione F, Ingrosso D, Perna A, Di Iorio V, Simonelli F, Moe OW, Capasso G. Zacchia M, et al. Among authors: simonelli f. Am J Physiol Renal Physiol. 2016 Oct 1;311(4):F686-F694. doi: 10.1152/ajprenal.00224.2016. Epub 2016 Aug 3. Am J Physiol Renal Physiol. 2016. PMID: 27488999 Free PMC article.
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: simonelli f. 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.
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S. Testa F, et al. Among authors: simonelli f. Eur J Hum Genet. 2017 May;25(5):651-655. doi: 10.1038/ejhg.2017.23. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272537 Free PMC article.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Among authors: simonelli f. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: simonelli f. Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11. Mol Genet Genomic Med. 2019. PMID: 30973214 Free PMC article.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F; TUDP (Telethon Undiagnosed Disease Program); Corton M, Lualdi S, Lanza F, Morana G, Ayuso C, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C. Bedoni N, et al. Among authors: simonelli f. Hum Mol Genet. 2020 Aug 3;29(13):2250-2260. doi: 10.1093/hmg/ddaa112. Hum Mol Genet. 2020. PMID: 32533184
252 results