Detalhe da pesquisa
1.
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
BMC Ophthalmol
; 23(1): 446, 2023 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932670
2.
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Clin Exp Ophthalmol
; 48(4): 486-499, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872526
3.
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
Hum Mutat
; 40(8): 1039-1045, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998843
4.
Genetic associations of central serous chorioretinopathy subtypes, neovascular age-related macular degeneration, and polypoidal choroidal vasculopathy.
Asia Pac J Ophthalmol (Phila)
; 13(1): 100003, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383077
5.
Genetic association of TIE2 with diabetic retinopathy and diabetic macular edema.
Asia Pac J Ophthalmol (Phila)
; 13(3): 100068, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750959
6.
Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis.
JAMA Ophthalmol
; 142(5): 437-444, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546604
7.
Latest Development on Genetics of Common Retinal Diseases.
Asia Pac J Ophthalmol (Phila)
; 12(2): 228-251, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36971708
8.
Whole-Exome Sequencing Among School-Aged Children With High Myopia.
JAMA Netw Open
; 6(12): e2345821, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38039006
9.
Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.
Invest Ophthalmol Vis Sci
; 64(7): 6, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37266952
10.
Multi-Polymorphism Analysis Reveals Joint Effects in Males With Chronic Central Serous Chorioretinopathy.
Invest Ophthalmol Vis Sci
; 64(4): 19, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067365
11.
Genetic associations of central serous chorioretinopathy: a systematic review and meta-analysis.
Br J Ophthalmol
; 106(11): 1542-1548, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34039561
12.
Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.
Front Cell Dev Biol
; 9: 650344, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136477
13.
Identification of TIE2 as a susceptibility gene for neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
Br J Ophthalmol
; 105(7): 1035-1040, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152144
14.
Unraveling the genetic causes in large pedigrees with gout by wholeexome sequencing.
Int J Mol Med
; 45(4): 1047-1058, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124961
15.
Retinal miRNAs variations in a large cohort of inherited retinal disease.
Ophthalmic Genet
; 39(2): 175-179, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28704127
16.
Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.
Sci Rep
; 7(1): 9064, 2017 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28831107