Detalles de la búsqueda
1.
Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.
Ophthalmic Res
; 67(1): 301-310, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38705136
2.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37455656
3.
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34445325
4.
Early neurodevelopmental characterization in children with cobalamin C/defect.
J Inherit Metab Dis
; 43(2): 367-374, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31503356
5.
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Int J Mol Sci
; 22(1)2020 Dec 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33396523
6.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
J Transl Med
; 17(1): 330, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31570112
7.
NGF eye-drops topical administration in patients with retinitis pigmentosa, a pilot study.
J Transl Med
; 14: 8, 2016 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-26748988
8.
Four years of corneal keratoplasty in Italian paediatric patients: indications and clinical outcomes.
Graefes Arch Clin Exp Ophthalmol
; 254(11): 2239-2245, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27488912
9.
Optical coherence tomography and electrophysiological findings in torpedo maculopathy.
Doc Ophthalmol
; 130(1): 65-70, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25487309
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38627549
11.
Simultaneous transepithelial topographic-guided laser and cross-linking to correct irregular astigmatism in a pediatric patient.
Eur J Ophthalmol
; 33(1): NP47-NP50, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34533388
12.
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Orphanet J Rare Dis
; 18(1): 223, 2023 07 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37525225
13.
Superficial and Deep Capillary Plexuses: Potential Biomarkers of Focal Retinal Defects in Eyes Affected by Macular Idiopatic Epiretinal Membranes? A Pilot Study.
Diagnostics (Basel)
; 12(12)2022 Dec 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-36553212
14.
Dexamethasone Intravitreal Implant (Ozurdex) in Paediatric Patients with Non-infectious Intermediate Uveitis and Related Cystoid Macular Oedema: Evaluation of Macular Morphology and Function with Six-month Follow-up; a Deeper Role of MfERG?
Ocul Immunol Inflamm
; 30(1): 234-240, 2022 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32835577
15.
Comparative analysis of visual outcomes of multifocal and monofocal intraocular lenses in congenital cataract surgery.
J Cataract Refract Surg
; 48(1): 56-60, 2022 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34054076
16.
Treatment of Advanced Coats' Disease With Combination Therapy of Laser Photocoagulation, Intravitreal Ranibizumab, and Sub-Tenon Methylprednisolone Acetate.
J Pediatr Ophthalmol Strabismus
; 59(3): 187-191, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-34928773
17.
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Sci Rep
; 12(1): 3774, 2022 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35260635
18.
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Front Genet
; 13: 914345, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35836572
19.
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Diagnostics (Basel)
; 12(9)2022 Sep 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36140584
20.
Narrative medicine to investigate the quality of life and emotional impact of inherited retinal disorders through the perspectives of patients, caregivers and clinicians: an Italian multicentre project.
BMJ Open
; 12(9): e061080, 2022 09 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36123082