Detalhe da pesquisa
1.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 147(6): 2085-2097, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
2.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
3.
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Mov Disord
; 38(6): 959-969, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433650
4.
INCREASING EVIDENCE FOR THE SAFETY OF FOVEA-INVOLVING HALF-DOSE PHOTODYNAMIC THERAPY FOR CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.
Retina
; 43(3): 379-388, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727801
5.
Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES).
BMC Ophthalmol
; 23(1): 322, 2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452273
6.
EFFICACY OF HALF-DOSE PHOTODYNAMIC THERAPY VERSUS HIGH-DENSITY SUBTHRESHOLD MICROPULSE LASER FOR TREATING PIGMENT EPITHELIAL DETACHMENTS IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.
Retina
; 42(4): 721-729, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34864802
7.
Outcome of half-dose photodynamic therapy in chronic central serous chorioretinopathy with fovea-involving atrophy.
Graefes Arch Clin Exp Ophthalmol
; 259(4): 905-910, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33119804
8.
RESPONSE OF CHOROIDAL ABNORMALITIES TO PHOTODYNAMIC THERAPY VERSUS MICROPULSE LASER IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY: Place Trial Report No. 4.
Retina
; 41(10): 2122-2131, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34543244
9.
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
BMC Ophthalmol
; 21(1): 168, 2021 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836713
10.
The Effect of Congenital and Acquired Bilateral Anophthalmia on Brain Structure.
Neuroophthalmology
; 45(2): 75-86, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34108778
11.
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
Ophthalmic Res
; 63(3): 234-243, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775146
12.
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Ophthalmology
; 126(10): 1410-1421, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905644
13.
Patient characteristics of untreated chronic central serous chorioretinopathy patients with focal versus diffuse leakage.
Graefes Arch Clin Exp Ophthalmol
; 257(7): 1419-1425, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123815
14.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
; 33(15): 2421-2423, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334266
15.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650884
16.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Mol Vis
; 24: 603-612, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30210231
17.
Half-Dose Photodynamic Therapy versus High-Density Subthreshold Micropulse Laser Treatment in Patients with Chronic Central Serous Chorioretinopathy: The PLACE Trial.
Ophthalmology
; 125(10): 1547-1555, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29776672
18.
Bilateral paracentral acute middle maculopathy in a SARS-CoV-2-positive patient.
Postgrad Med J
; 98(e2): e105-e106, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066542
19.
Colour imaging in the monitoring and documentation of choroidal naevi. Are Optomap colour images adequate for this purpose?
J Vis Commun Med
; 39(1-2): 10-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253508
20.
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
Lancet
; 383(9923): 1129-37, 2014 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439297