Detalhe da pesquisa
1.
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
2.
Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.
PLoS Genet
; 15(10): e1008357, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609978
3.
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Am J Hum Genet
; 103(1): 58-73, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961570
4.
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.
Hum Mol Genet
; 27(14): 2563-2572, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726989
5.
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
6.
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy.
Genet Med
; 22(1): 77-84, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273345
7.
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.
Clin Exp Ophthalmol
; 48(3): 356-365, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765079
8.
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.
Genet Med
; 21(10): 2345-2354, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31000793
9.
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
BMC Med Genet
; 20(1): 111, 2019 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216994
10.
[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 662-665, 2019 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31302906
11.
Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.
J Hum Genet
; 63(10): 1055-1070, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30026504
12.
Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.
BMC Med Genet
; 18(1): 69, 2017 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28651521
13.
Genome-Wide Analysis of Host Responses to Four Different Types of Microorganisms in Bombyx Mori (Lepidoptera: Bombycidae).
J Insect Sci
; 16(1)2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27382132
14.
[Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms with primary angle closure glaucoma in ethnic Han Chinese from Sichuan].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(4): 545-9, 2016 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-27455018
15.
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.
Hum Mol Genet
; 27(14): 2587, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931334
16.
A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.
Hum Mol Genet
; 22(11): 2325-33, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23406873
17.
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
J Hum Genet
; 60(10): 625-30, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246154
18.
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
Mol Vis
; 20: 1296-306, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352738
19.
Identification of LRRC46 as a novel candidate gene for high myopia.
Sci China Life Sci
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874710
20.
Evaluation of MMP2 as a candidate gene for high myopia.
Mol Vis
; 19: 121-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23378725