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
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
Inglês
| MEDLINE | ID: mdl-35332618
3.
Network-based visualisation reveals new insights into transposable element diversity.
Mol Syst Biol
; 17(6): e9600, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34169647
4.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-35174801
5.
Establishing the prevalence of common tissue-specific autoantibodies following severe acute respiratory syndrome coronavirus 2 infection.
Clin Exp Immunol
; 205(2): 99-105, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34082475
6.
Detecting beta-amyloid glycation by intrinsic fluorescence - Understanding the link between diabetes and Alzheimer's disease.
Arch Biochem Biophys
; 704: 108886, 2021 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33887256
7.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-33595255
8.
Influence of local microenvironment on the double hydrogen transfer in porphycene.
Phys Chem Chem Phys
; 22(30): 17117-17128, 2020 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32687131
9.
Cu2+ Effects on Beta-Amyloid Oligomerisation Monitored by the Fluorescence of Intrinsic Tyrosine.
Chemphyschem
; 20(23): 3181-3185, 2019 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31539190
10.
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
Pharm Res
; 36(2): 34, 2019 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30617669
11.
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.
Retina
; 39(11): 2059-2069, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31021898
12.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-29940588
13.
Public Health and School Health Education: Aligning Forces for Change.
Health Promot Pract
; 20(6): 818-823, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31465239
14.
Quality Assurance in Teaching K-12 Health Education: Paving a New Path Forward.
Health Promot Pract
; 20(6): 845-857, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31465246
15.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-29499183
16.
EVALUATION OF FULL-FIELD ELECTRORETINOGRAM REDUCTIONS AFTER OCRIPLASMIN TREATMENT: Results of the OASIS Trial ERG Substudy.
Retina
; 38(2): 364-378, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28198785
17.
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1).
Ophthalmic Res
; 60(3): 185-194, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30110705
18.
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Adv Exp Med Biol
; 1074: 237-245, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29721949
19.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-26023183
20.
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Hum Mutat
; 38(6): 704-715, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28271586