Detalhe da pesquisa
1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
2.
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Int J Mol Sci
; 25(2)2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256083
3.
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).
Hum Mol Genet
; 29(22): 3706-3716, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355362
4.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
5.
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis.
Mol Ther
; 29(8): 2456-2468, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781914
6.
Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis.
BMC Ophthalmol
; 22(1): 266, 2022 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701753
7.
Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.
Mol Ther
; 28(1): 266-278, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604676
8.
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.
Proc Natl Acad Sci U S A
; 115(36): E8547-E8556, 2018 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127005
9.
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
Proc Natl Acad Sci U S A
; 115(12): E2839-E2848, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29507198
10.
Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
Int J Mol Sci
; 22(4)2021 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670772
11.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
12.
A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.
J Biol Chem
; 294(10): 3476-3488, 2019 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622141
13.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
14.
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Hum Mol Genet
; 26(1): 133-144, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28025326
15.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Hum Mol Genet
; 26(12): 2218-2230, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369466
16.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569549
17.
Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials.
Int J Mol Sci
; 20(21)2019 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31717845
18.
Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials.
Int J Mol Sci
; 20(10)2019 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31117170
19.
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
20.
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Hum Mol Genet
; 25(19): 4211-4226, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506978