Detalhe da pesquisa
1.
Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.
FASEB J
; 38(4): e23493, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363575
2.
Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.
Mol Genet Genomics
; 299(1): 32, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38472449
3.
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.
J Med Genet
; 60(2): 174-182, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361685
4.
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Clin Genet
; 103(3): 320-329, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453149
5.
Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.
Clin Exp Ophthalmol
; 50(4): 441-448, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35133048
6.
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Invest Ophthalmol Vis Sci
; 65(4): 1, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558095
7.
Defective EMC1 drives abnormal retinal angiogenesis via Wnt/ß-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy.
Genes Dis
; 10(6): 2572-2585, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37554197
8.
Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.
Genet Test Mol Biomarkers
; 26(3): 146-151, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35244470
9.
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
Eur J Ophthalmol
; 32(6): 3220-3226, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037517
10.
A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
Mol Genet Genomic Med
; 10(6): e1949, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35417085
11.
CD146 as a promising therapeutic target for retinal and choroidal neovascularization diseases.
Sci China Life Sci
; 65(6): 1157-1170, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729700
12.
Refractive status and optical components in premature infants with and without retinopathy of prematurity: A 4- to 5-year cohort study.
Front Pediatr
; 10: 922303, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467469
13.
CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.
JCI Insight
; 7(14)2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35700046
14.
Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy.
Genet Test Mol Biomarkers
; 25(6): 399-404, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077673
15.
Refractive status and optical components of premature babies with or without retinopathy of prematurity at 7 years old.
Transl Pediatr
; 9(2): 108-116, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32477910
16.
Erratum to: CD146 as a promising therapeutic target for retinal and choroidal neovascularization diseases.
Sci China Life Sci
; 67(2): 434, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38051465
17.
Refractive state and optical compositions of preterm children with and without retinopathy of prematurity in the first 6 years of life.
Medicine (Baltimore)
; 96(45): e8565, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29137074
18.
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.
J Genet Genomics
; 49(6): 590-594, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896607