Detalhe da pesquisa
1.
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Hum Mol Genet
; 33(11): 945-957, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453143
2.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Hum Mol Genet
; 32(12): 2005-2015, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36811936
3.
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Graefes Arch Clin Exp Ophthalmol
; 262(1): 337-351, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584790
4.
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
Clin Genet
; 103(4): 472-477, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36507858
5.
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
Exp Eye Res
; 234: 109600, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481223
6.
Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.
Doc Ophthalmol
; 147(3): 225-232, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37715919
7.
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
Doc Ophthalmol
; 146(1): 17-32, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36417138
8.
A Review of Machine Learning Algorithms for Retinal Cyst Segmentation on Optical Coherence Tomography.
Sensors (Basel)
; 23(6)2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36991857
9.
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Am J Med Genet A
; 188(3): 948-952, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821467
10.
Characteristics and risk factors of retinal vasculopathy in antiphospholipid syndrome.
Lupus
; 31(2): 178-186, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042380
11.
A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.
Graefes Arch Clin Exp Ophthalmol
; 260(2): 645-653, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427740
12.
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Genet Med
; 23(6): 1041-1049, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531668
13.
Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
Mol Vis
; 27: 221-232, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012225
14.
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Exp Eye Res
; 202: 108327, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141049
15.
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.
Exp Eye Res
; 202: 108389, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33301772
16.
Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy.
Gene Ther
; 27(7-8): 370-382, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483213
17.
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.
Hum Mol Genet
; 27(23): 4157-4168, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085091
18.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
19.
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
J Clin Immunol
; 40(2): 350-358, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31939038
20.
Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.
Exp Eye Res
; 198: 108147, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702353