Detalhe da pesquisa
1.
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
PLoS Genet
; 16(4): e1008721, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32339198
2.
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development.
Ophthalmology
; 129(6): 626-636, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031440
3.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Hum Mol Genet
; 23(21): 5827-37, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899048
4.
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Am J Hum Genet
; 93(2): 321-9, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849777
5.
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Hum Mutat
; 35(3): 289-93, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375934
6.
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Hum Mol Genet
; 21(18): 4126-37, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22723017
7.
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Hum Mutat
; 34(3): 506-14, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23281133
8.
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Am J Hum Genet
; 86(5): 805-12, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20451172
9.
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
Proc Natl Acad Sci U S A
; 107(35): 15523-8, 2010 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-20713727
10.
Transcriptome Analysis Reveals Vimentin-Induced Disruption of Cell-Cell Associations Augments Breast Cancer Cell Migration.
Cells
; 11(24)2022 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36552797
11.
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
Mol Vis
; 17: 1249-53, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21633712
12.
Vimentin Is at the Heart of Epithelial Mesenchymal Transition (EMT) Mediated Metastasis.
Cancers (Basel)
; 13(19)2021 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638469
13.
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
BMC Med Genet
; 11: 145, 2010 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20939871
14.
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.
Ophthalmic Genet
; 39(4): 539-543, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29947570
15.
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 48(3): 1330-4, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17325180
16.
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.
BMC Med Genomics
; 9: 15, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27001270
17.
NMNAT1 mutations cause Leber congenital amaurosis.
Nat Genet
; 44(9): 1040-5, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22842227
18.
A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 52(9): 6597-603, 2011 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21715351
19.
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Invest Ophthalmol Vis Sci
; 52(13): 9304-9, 2011 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22039234
20.
Mutation detection in factor VIII cDNA from lymphocytes of hemophilia A patients by solid phase fluorescent chemical cleavage of mismatch.
Methods Mol Biol
; 187: 109-23, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12013738