Detalhe da pesquisa
1.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Hum Mol Genet
; 31(19): 3290-3298, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567543
2.
Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
PLoS Genet
; 17(10): e1009858, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662343
3.
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
PLoS Genet
; 17(5): e1009497, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979322
4.
Myopia control in Mendelian forms of myopia.
Ophthalmic Physiol Opt
; 43(3): 494-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36882953
5.
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Hum Mutat
; 43(3): 380-388, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35001458
6.
CAUSES AND CLINICAL MANIFESTATIONS OF MASQUERADE SYNDROMES IN INTRAOCULAR INFLAMMATORY DISEASES.
Retina
; 41(11): 2318-2324, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33814536
7.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643219
8.
Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.
Hum Genet
; 137(10): 847-862, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30317457
9.
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Hum Mutat
; 36(1): 43-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363634
10.
Relapse in ocular tuberculosis: relapse rate, risk factors and clinical management in a non-endemic country.
Br J Ophthalmol
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609164
11.
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Ophthalmology
; 120(6): 1239-46, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499059
12.
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Am J Ophthalmol
; 246: 1-9, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252678
13.
Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
Acta Ophthalmol
; 2023 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37749859
14.
Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis.
JAMA Ophthalmol
; 141(8): 737-745, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37410486
15.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107
16.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785559
17.
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
Br J Ophthalmol
; 2023 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852740
18.
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Am J Hum Genet
; 85(2): 240-7, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19615668
19.
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology
; 119(4): 819-26, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264887
20.
Cone-rod dystrophy can be a manifestation of Danon disease.
Graefes Arch Clin Exp Ophthalmol
; 250(5): 769-74, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290069