Detalhe da pesquisa
1.
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Hum Mol Genet
; 25(24): 5444-5459, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798110
2.
Improvement and decline in vision with gene therapy in childhood blindness.
N Engl J Med
; 372(20): 1920-6, 2015 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25936984
3.
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
Hum Mol Genet
; 24(11): 3220-37, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712131
4.
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Hum Mol Genet
; 28(1): 175, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285110
5.
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 92(1): 67-75, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246293
6.
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.
Adv Exp Med Biol
; 854: 169-75, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427408
7.
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
Proc Natl Acad Sci U S A
; 110(6): E517-25, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23341635
8.
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
Hum Mol Genet
; 22(1): 168-83, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035049
9.
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Ophthalmology
; 122(5): 997-1007, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616768
10.
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.
BMC Ophthalmol
; 15: 98, 2015 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26253563
11.
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
Am J Hum Genet
; 88(2): 207-15, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21295282
12.
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Hum Mol Genet
; 20(7): 1411-23, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21245082
13.
ABCA4 disease progression and a proposed strategy for gene therapy.
Hum Mol Genet
; 18(5): 931-41, 2009 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19074458
14.
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Proc Natl Acad Sci U S A
; 105(39): 15112-7, 2008 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18809924
15.
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Hum Mol Genet
; 17(15): 2405-15, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463160
16.
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Mol Vis
; 15: 1098-106, 2009 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-19503738
17.
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.
Invest Ophthalmol Vis Sci
; 49(4): 1580-90, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385078
18.
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Invest Ophthalmol Vis Sci
; 49(6): 2651-60, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18281613
19.
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Hum Mutat
; 28(11): 1074-83, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17554762
20.
Vision 1 year after gene therapy for Leber's congenital amaurosis.
N Engl J Med
; 361(7): 725-7, 2009 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19675341