Detalhe da pesquisa
1.
Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders.
Metabolomics
; 19(2): 10, 2023 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745234
2.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
3.
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Ophthalmology
; 128(5): 706-718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33039401
4.
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
J Inherit Metab Dis
; 44(6): 1409-1418, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534370
5.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753734
6.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
7.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
8.
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
9.
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Ophthalmology
; 125(5): 735-746, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310964
10.
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION.
Retina
; 38(3): 606-613, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28225368
11.
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
Retina
; 38(2): 379-386, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28590961
12.
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
Retina
; 38(3): 620-628, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28234808
13.
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Retina
; 37(7): 1360-1370, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27764019
14.
Clinical and Genetic Features of Choroideremia in Childhood.
Ophthalmology
; 123(10): 2158-65, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506488
15.
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
; 126(2): 320-322, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30316539
16.
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Am J Ophthalmol
; 246: 1-9, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252678
17.
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Mol Genet Genomic Med
; 9(12): e1663, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749171
18.
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Br J Ophthalmol
; 104(4): 451-460, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31704701
19.
Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration.
Transl Vis Sci Technol
; 9(6): 26, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32821523
20.
Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.
Sci Rep
; 10(1): 12165, 2020 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32699277