Detalhe da pesquisa
1.
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Proc Natl Acad Sci U S A
; 112(25): E3236-45, 2015 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26056285
2.
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
Hum Mol Genet
; 24(23): 6565-79, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395458
3.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Am J Hum Genet
; 88(6): 767-777, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21664999
4.
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
Exp Eye Res
; 121: 74-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24560797
5.
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Am J Hum Genet
; 86(5): 686-95, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398886
6.
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Mol Genet Metab
; 109(3): 289-95, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23680354
7.
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Am J Hum Genet
; 84(6): 801-6, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19481195
8.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Am J Hum Genet
; 85(5): 581-92, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19853238
9.
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Am J Hum Genet
; 82(1): 19-31, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179881
10.
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.
Mol Vis
; 16: 2916-22, 2010 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21203346
11.
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Eur J Hum Genet
; 28(5): 576-586, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836858
12.
A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1.
Hum Gene Ther Methods
; 30(2): 44-52, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963787
13.
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Hum Mutat
; 29(8): 1017-27, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18425797
14.
Focus on molecules: lens intrinsic membrane protein (LIM2/MP20).
Exp Eye Res
; 103: 115-6, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21867698
15.
Developmental and tissue expression of Xenopus laevis RPGR.
Invest Ophthalmol Vis Sci
; 47(1): 348-56, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16384984
16.
Inherited eye disease: cause and late effect.
Trends Mol Med
; 11(10): 449-55, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16153893
17.
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Am J Ophthalmol
; 141(2): 418-20, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16458719
18.
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.
Dis Model Mech
; 9(11): 1317-1328, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519691
19.
Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
Am J Med Genet A
; 152A(9): 2390-3, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683995
20.
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
Orphanet J Rare Dis
; 10: 145, 2015 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560304