Detalhe da pesquisa
1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
2.
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Genet Med
; 26(6): 101081, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293907
3.
Extensive Macular Atrophy with Pseudodrusen-like appearance: Progression Kinetics and Late-Stage Findings.
Ophthalmology
; 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38583493
4.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
5.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat
; 43(5): 613-624, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266249
6.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
7.
Delayed-onset hypoxic cortical blindness: coming back from the abyss.
Doc Ophthalmol
; 144(2): 147-152, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34978660
8.
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Int J Mol Sci
; 23(13)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806195
9.
Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy.
Int J Mol Sci
; 23(12)2022 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743034
10.
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia.
Int J Mol Sci
; 24(1)2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613663
11.
A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation.
Medicina (Kaunas)
; 58(6)2022 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743998
12.
Extreme Interocular Asymmetry in an Atypical Case of a Hydroxychloroquine-Related Retinopathy.
Medicina (Kaunas)
; 58(7)2022 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35888686
13.
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Hum Mutat
; 42(4): 323-341, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33538369
14.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Hum Mutat
; 42(6): 641-666, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847019
15.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clin Genet
; 99(2): 298-302, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124039
16.
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Am J Med Genet A
; 185(12): 3717-3727, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331386
17.
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
Retina
; 41(4): 872-881, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32826790
18.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Int J Mol Sci
; 22(19)2021 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638692
19.
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
Int J Mol Sci
; 22(9)2021 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922602
20.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360642