Detalhe da pesquisa
1.
Efficacy and Safety of Artificial Tears Containing Lipidure and Hypromellose for the Treatment of Moderate Dry Eye Disease in Contact Lens Wearers.
Medicina (Kaunas)
; 60(2)2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38399574
2.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
Medicina (Kaunas)
; 60(2)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38399542
3.
How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.
Int J Mol Sci
; 24(11)2023 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298674
4.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Int J Mol Sci
; 24(23)2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069202
5.
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.
Hum Mol Genet
; 27(24): 4204-4217, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30184081
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33396523
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570112
8.
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
Ophthalmic Res
; 60(3): 169-175, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30078014
9.
Design of a new 3D printed all-in-one magnetic smartphone adapter for fundus and anterior segment imaging.
Eur J Ophthalmol
; : 11206721241246187, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38644806
10.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Nat Commun
; 13(1): 6595, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329026
11.
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Invest Ophthalmol Vis Sci
; 62(15): 12, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905022
12.
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
Eur J Ophthalmol
; 31(2): NP18-NP22, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566003
13.
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Ital J Pediatr
; 45(1): 72, 2019 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31196119
14.
Clinical and surgical data of affected members of a classic CFEOM I family.
BMC Ophthalmol
; 3: 6, 2003 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-12702216
15.
Subfoveal choroidal blood flow and central retinal function in retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 52(2): 1064-9, 2011 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20861481
16.
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.
Genomics
; 79(4): 560-72, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11944989