Detalhe da pesquisa
1.
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Hum Mol Genet
; 28(15): 2531-2548, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30986821
2.
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
3.
A hospital-based five-year prospective study on the prevalence of Leber's hereditary optic neuropathy with genetic confirmation.
Mol Vis
; 26: 789-796, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33380779
4.
Prevalence and Pattern of Geographic Atrophy in Asia: The Asian Eye Epidemiology Consortium.
Ophthalmology
; 127(10): 1371-1381, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32344073
5.
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
6.
Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.
Ophthalmology
; 125(5): 664-670, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310965
7.
MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population.
Int Ophthalmol
; 38(2): 599-606, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28299500
8.
Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene.
Diabetologia
; 58(10): 2288-97, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188370
9.
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
10.
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Hum Mol Genet
; 22(7): 1432-42, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307924
11.
ABCB6 mutations cause ocular coloboma.
Am J Hum Genet
; 90(1): 40-8, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22226084
12.
Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Genet Med
; 17(4): 279-84, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232845
13.
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
14.
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Mol Vis
; 21: 88-97, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678763
15.
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Nat Genet
; 38(7): 755-7, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16767101
16.
Polymorphisms in sodium-dependent vitamin C transporter genes and plasma, aqueous humor and lens nucleus ascorbate concentrations in an ascorbate depleted setting.
Exp Eye Res
; 124: 24-30, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24815519
17.
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Indian J Ophthalmol
; 72(6): 902-911, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38317323
18.
Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.
J Glaucoma
; 33(3): 218-224, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670504
19.
Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.
EXCLI J
; 22: 1077-1091, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054206
20.
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
Hum Mutat
; 33(2): 419-28, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072594