Detalhe da pesquisa
1.
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
2.
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
3.
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
Am J Med Genet A
; 191(12): 2819-2824, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37530213
4.
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
5.
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
6.
Genetic polymorphisms of apolipoprotein E in nonarteritic anterior ischemic optic neuropathy.
Graefes Arch Clin Exp Ophthalmol
; 260(8): 2717-2726, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35258716
7.
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
8.
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
9.
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Exp Eye Res
; 202: 108327, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141049
10.
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
11.
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
12.
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
13.
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
14.
Response to "Letter to the editor" regarding "Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease".
Am J Med Genet A
; 194(1): 119-120, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728281
15.
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Retina
; 39(10): 2040-2052, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134391
16.
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Hum Mol Genet
; 25(8): 1479-88, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908613
17.
CEP78 is mutated in a distinct type of Usher syndrome.
J Med Genet
; 54(3): 190-195, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27627988
18.
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Mol Vis
; 23: 977-986, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386872
19.
Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.
Invest Ophthalmol Vis Sci
; 65(2): 17, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324300
20.
Gender differences in the burden of multiple sclerosis in China from 1990 to 2019 and its 25-year projection: An analysis of the Global Burden of Diseases Study.
Health Sci Rep
; 6(12): e1738, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38033712