Detalhe da pesquisa
1.
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
J Transl Med
; 22(1): 75, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243264
2.
Influence of Dyadic Coping Model on Anxiety and Depression Level and Treatment Compliance in Glaucoma Patients.
Altern Ther Health Med
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38551418
3.
Truncation mutations in MYRF underlie primary angle closure glaucoma.
Hum Genet
; 142(1): 103-123, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36129575
4.
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Int J Mol Sci
; 24(7)2023 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047703
5.
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish.
Clin Genet
; 102(5): 424-433, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35989590
6.
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
Exp Eye Res
; 223: 109217, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35973442
7.
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
Hum Mol Genet
; 28(12): 1959-1970, 2019 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689892
8.
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Mol Genet Genomics
; 296(4): 845-862, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884488
9.
Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
Mol Vis
; 27: 50-60, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33633439
10.
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Mol Vis
; 27: 309-322, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34035645
11.
Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Exp Eye Res
; 203: 108405, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33347869
12.
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Exp Eye Res
; 208: 108637, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048777
13.
Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.
Graefes Arch Clin Exp Ophthalmol
; 259(10): 2929-2939, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907885
14.
Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families.
Hum Genet
; 139(8): 1057-1064, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248360
15.
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Mol Vis
; 26: 588-602, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32913385
16.
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.
J Med Genet
; 56(5): 325-331, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573563
17.
A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
Ophthalmic Physiol Opt
; 40(3): 281-288, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196734
18.
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Hum Genet
; 138(10): 1077-1090, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172260
19.
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Mol Vis
; 25: 821-833, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908400
20.
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Exp Eye Res
; 189: 107846, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31626798