Brunetti-Pierri R - Search Results

1

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.

Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F. Brunetti-Pierri R, et al. Int J Mol Sci. 2021 Feb 7;22(4):1681. doi: 10.3390/ijms22041681. Int J Mol Sci. 2021. PMID: 33562422 Free PMC article.

2

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. 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.

3

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

Testa F, Melillo P, Rossi S, Marcelli V, de Benedictis A, Colucci R, Gallo B, Brunetti-Pierri R, Donati S, Azzolini C, Marciano E, Simonelli F. Testa F, et al. Ophthalmic Genet. 2018 Jan-Feb;39(1):17-21. doi: 10.1080/13816810.2017.1329445. Epub 2017 Jul 13. Ophthalmic Genet. 2018. PMID: 28704163

4

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F. Di Iorio V, et al. Genes (Basel). 2017 Oct 20;8(10):280. doi: 10.3390/genes8100280. Genes (Basel). 2017. PMID: 29053603 Free PMC article.

5

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. 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.

6

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. 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.

7

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F. Karali M, et al. Among authors: brunetti pierri r. Int J Mol Sci. 2019 Dec 20;21(1):86. doi: 10.3390/ijms21010086. Int J Mol Sci. 2019. PMID: 31877679 Free PMC article.

8

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Di Iorio V, Karali M, Melillo P, Testa F, Brunetti-Pierri R, Musacchia F, Condroyer C, Neidhardt J, Audo I, Zeitz C, Banfi S, Simonelli F. Di Iorio V, et al. Among authors: brunetti pierri r. Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):36. doi: 10.1167/iovs.61.14.36. Invest Ophthalmol Vis Sci. 2020. PMID: 33372982 Free PMC article.

9

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.

Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F. Testa F, et al. Among authors: brunetti pierri r. Invest Ophthalmol Vis Sci. 2021 Jul 1;62(9):1. doi: 10.1167/iovs.62.9.1. Invest Ophthalmol Vis Sci. 2021. PMID: 34196655 Free PMC article.

10

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants.

Brunetti-Pierri R, Karali M, Testa F, Cappuccio G, Onore ME, Romano F, De Rosa G, Tedeschi E, Brunetti-Pierri N, Banfi S, Simonelli F. Brunetti-Pierri R, et al. Diagnostics (Basel). 2021 Jul 6;11(7):1218. doi: 10.3390/diagnostics11071218. Diagnostics (Basel). 2021. PMID: 34359301 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

18 results

Search Page