Brunetti-Pierri R - Search Results

1

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.

2

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

3

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.

4

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.

5

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.

6

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.

7

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.

8

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.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

18 results

Search Page

Filters