Detalhe da pesquisa
1.
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Doc Ophthalmol
; 143(1): 61-73, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512609
2.
ISCEV extended protocol for the S-cone ERG.
Doc Ophthalmol
; 140(2): 95-101, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749034
3.
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Doc Ophthalmol
; 138(1): 55-70, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446867
4.
Perifoveal interdigitation zone loss in hydroxychloroquine toxicity leads to subclinical bull's eye lesion appearance on near-infrared reflectance imaging.
Doc Ophthalmol
; 136(1): 57-68, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124422
5.
Acute progressive paravascular placoid neuroretinopathy with negative-type electroretinography in paraneoplastic retinopathy.
Doc Ophthalmol
; 134(3): 227-235, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28382556
6.
FUNDUS AUTOFLUORESCENCE IN RUBELLA RETINOPATHY: Correlation With Photoreceptor Structure and Function.
Retina
; 37(1): 124-134, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28005720
7.
Impact of Raised Serum Cobalt Levels From Recalled Articular Surface Replacement Hip Prostheses on the Visual Pathway.
J Arthroplasty
; 32(10): 3147-3151, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28647139
8.
The effect of cobalt on the human eye.
Doc Ophthalmol
; 130(1): 43-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25380579
9.
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Invest Ophthalmol Vis Sci
; 65(5): 22, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743414
10.
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Transl Vis Sci Technol
; 10(2): 38, 2021 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003923
11.
Evaluation of focus and deep learning methods for automated image grading and factors influencing image quality in adaptive optics ophthalmoscopy.
Sci Rep
; 11(1): 16641, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404857
12.
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.
Ophthalmic Genet
; 42(1): 62-70, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33047631
13.
Retinal Differential Light Sensitivity Variation Across the Macula in Healthy Subjects: Importance of Cone Separation and Loci Eccentricity.
Transl Vis Sci Technol
; 10(6): 16, 2021 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111262
14.
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Ophthalmic Genet
; 42(3): 266-275, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624564
15.
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.
Ophthalmic Genet
; 42(1): 1-14, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32985313
16.
Genotypic analysis of X-linked retinoschisis in Western Australia.
Adv Exp Med Biol
; 664: 283-91, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20238027
17.
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Mol Genet Genomic Med
; 8(7): e1259, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627976
18.
Thirteen-year follow up of isolated foveal retinoschisis in a 24-year-old woman.
Clin Exp Ophthalmol
; 34(6): 600-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16925710