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.
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
3.
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes.
Mol Vis
; 28: 300-316, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36338671
4.
Full-Field Electroretinography Changes Associated with Age-Related Macular Degeneration: A Systematic Review with Meta-Analyses.
Ophthalmologica
; 245(3): 195-203, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35016191
5.
Long-term effects of hyperbaric oxygen therapy on visual acuity and retinopathy.
Undersea Hyperb Med
; 47(3): 423-430, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32931668
6.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Am J Hum Genet
; 99(3): 770-776, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588451
7.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
8.
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Neurobiol Dis
; 98: 36-51, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27890673
9.
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
Mol Vis
; 22: 362-73, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27212874
10.
Macular function in preterm children at school age.
Doc Ophthalmol
; 133(3): 151-157, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27838859
11.
A cross-linked hyaluronic acid hydrogel (Healaflow(®)) as a novel vitreous substitute.
Graefes Arch Clin Exp Ophthalmol
; 254(4): 697-703, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26743755
12.
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
Graefes Arch Clin Exp Ophthalmol
; 254(2): 215-21, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940553
13.
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
Acta Paediatr
; 105(12): 1451-1460, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27461099
14.
Macular function measured by binocular mfERG and compared with macular structure in healthy children.
Doc Ophthalmol
; 131(3): 169-76, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476926
15.
Cone implicit time as a predictor of visual outcome in macular hole surgery.
Graefes Arch Clin Exp Ophthalmol
; 252(12): 1903-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24789462
16.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946133
17.
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Hum Mol Genet
; 20(4): 719-30, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21127010
18.
Vitreous levels of oxidative stress biomarkers and the radical-scavenger α1-microglobulin/A1M in human rhegmatogenous retinal detachment.
Graefes Arch Clin Exp Ophthalmol
; 251(3): 725-32, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22829194
19.
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Genes (Basel)
; 14(7)2023 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510321
20.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107