Detalhe da pesquisa
1.
Genotypic and phenotypic characterization of a cohort of patients affected by rod CNG channel-associated retinitis pigmentosa.
Ophthalmic Res
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705136
2.
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Mol Vis
; 27: 78-94, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33688152
3.
Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.
Mol Vis
; 27: 542-554, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34566400
4.
CHOROIDAL VASCULARITY INDEX IN YOUNG CHOROIDEREMIA PATIENTS.
Retina
; 41(5): 1018-1025, 2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32826791
5.
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Int J Mol Sci
; 22(13)2021 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281261
6.
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.
Graefes Arch Clin Exp Ophthalmol
; 258(9): 1881-1892, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445016
7.
Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
Graefes Arch Clin Exp Ophthalmol
; 257(1): 9-22, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30324420
8.
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
Graefes Arch Clin Exp Ophthalmol
; 257(12): 2655-2663, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31654189
9.
Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.
Ophthalmologica
; 242(4): 195-207, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31416074
10.
Peripapillary comet lesions and comet rain in PXE-related retinopathy.
Graefes Arch Clin Exp Ophthalmol
; 256(9): 1605-1614, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948180
11.
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Graefes Arch Clin Exp Ophthalmol
; 255(11): 2099-2111, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752371
12.
Retinal Pigment Epithelium Atrophy After Subretinal Voretigene Neparvovec-rzyl for RPE65-Related Disease: A 6-Month Follow-Up.
Retina
; 42(12): e55-e56, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067422
13.
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.
BMC Ophthalmol
; 17(1): 19, 2017 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235399
14.
Long-Term Follow-Up of Choroidal Neovascularization due to Angioid Streaks with pro re nata Intravitreal Anti-VEGF Treatment.
Ophthalmologica
; 238(1-2): 44-51, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28641290
15.
En face OCT in Stargardt disease.
Graefes Arch Clin Exp Ophthalmol
; 254(9): 1669-79, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26743751
16.
Dietary profile of patients with Stargardt's disease and Retinitis Pigmentosa: is there a role for a nutritional approach?
BMC Ophthalmol
; 16: 13, 2016 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801981
17.
Computer-Assisted Evaluation of Retinal Vessel Diameter in Retinitis Pigmentosa.
Ophthalmic Res
; 56(3): 139-44, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27399173
18.
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.
Mol Vis
; 20: 1717-31, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25558175
19.
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Eye (Lond)
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627549
20.
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy.
Eur J Ophthalmol
; : 11206721241247421, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602021