Search details
1.
VALIDATION OF A DEEP LEARNING-BASED ALGORITHM FOR SEGMENTATION OF THE ELLIPSOID ZONE ON OPTICAL COHERENCE TOMOGRAPHY IMAGES OF AN USH2A-RELATED RETINAL DEGENERATION CLINICAL TRIAL.
Retina
; 42(7): 1347-1355, 2022 07 01.
Article
in English
| MEDLINE | ID: mdl-35174801
2.
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.
Retina
; 41(5): 898-907, 2021 May 01.
Article
in English
| MEDLINE | ID: mdl-33595255
3.
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
Pharm Res
; 36(2): 34, 2019 Jan 07.
Article
in English
| MEDLINE | ID: mdl-30617669
4.
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.
Retina
; 39(11): 2059-2069, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31021898
5.
Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1).
Ophthalmic Res
; 61(1): 36-43, 2019.
Article
in English
| MEDLINE | ID: mdl-29940588
6.
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.
Exp Eye Res
; 171: 48-53, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29499183
7.
EVALUATION OF FULL-FIELD ELECTRORETINOGRAM REDUCTIONS AFTER OCRIPLASMIN TREATMENT: Results of the OASIS Trial ERG Substudy.
Retina
; 38(2): 364-378, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-28198785
8.
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Adv Exp Med Biol
; 1074: 237-245, 2018.
Article
in English
| MEDLINE | ID: mdl-29721949
9.
Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity.
Proc Natl Acad Sci U S A
; 112(23): E3010-9, 2015 Jun 09.
Article
in English
| MEDLINE | ID: mdl-26023183
10.
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Hum Mutat
; 38(11): 1521-1533, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28714225
11.
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Mol Vis
; 23: 470-481, 2017.
Article
in English
| MEDLINE | ID: mdl-28761320
12.
TOWARDS A TREATMENT FOR DIABETIC RETINOPATHY: Intravitreal Toxicity and Preclinical Safety Evaluation of Inducible Nitric Oxide Synthase Inhibitors.
Retina
; 37(1): 22-31, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27380429
13.
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
Mol Vis
; 22: 1239-1247, 2016.
Article
in English
| MEDLINE | ID: mdl-27777503
14.
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.
Ophthalmology
; 123(4): 817-28, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26786511
15.
CLINICAL ENDPOINTS FOR THE STUDY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION.
Retina
; 36(10): 1806-22, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27652913
16.
Worldwide Argus II implantation: recommendations to optimize patient outcomes.
BMC Ophthalmol
; 16: 52, 2016 May 06.
Article
in English
| MEDLINE | ID: mdl-27154461
17.
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Adv Exp Med Biol
; 854: 193-200, 2016.
Article
in English
| MEDLINE | ID: mdl-26427411
18.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 331-9, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22325362
19.
Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.
Ophthalmology
; 122(4): 833-9, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25556114
20.
Phase ii, randomized, placebo-controlled, 90-day study of emixustat hydrochloride in geographic atrophy associated with dry age-related macular degeneration.
Retina
; 35(6): 1173-83, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25932553