Detalhe da pesquisa
1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662339
2.
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
3.
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium.
Exp Eye Res
; 215: 108899, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34929159
4.
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Exp Eye Res
; 202: 108327, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141049
5.
New Technologies for Outcome Measures in Retinal Disease: Review from the European Vision Institute Special Interest Focus Group.
Ophthalmic Res
; 63(2): 77-87, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31352462
6.
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
BMC Ophthalmol
; 19(1): 246, 2019 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31810438
7.
Long-term effect of gene therapy on Leber's congenital amaurosis.
N Engl J Med
; 372(20): 1887-97, 2015 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25938638
8.
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.
Ophthalmology
; 125(11): 1765-1775, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29884405
9.
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.
Retina
; 38(9): 1725-1730, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29160785
10.
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Physiol Genomics
; 49(4): 216-229, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28130426
11.
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
Retina
; 37(10): 1956-1966, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145975
12.
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Ophthalmology
; 123(10): 2183-95, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27491397
13.
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
Ophthalmology
; 123(7): 1606-20, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102010
14.
Unique epitopes for carbonic anhydrase II autoantibodies related to autoimmune retinopathy and cancer-associated retinopathy.
Exp Eye Res
; 147: 161-168, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185162
15.
INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING.
Retina
; 36(1): 119-30, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110599
16.
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF CHOROIDAL NEOVASCULARIZATION IN FOUR INHERITED RETINAL DYSTROPHIES.
Retina
; 36(12): 2339-2347, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27336230
17.
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Hum Mol Genet
; 22(25): 5136-45, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918662
18.
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Am J Hum Genet
; 87(5): 643-54, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21070897
19.
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nat Genet
; 31(4): 435-8, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12118255
20.
Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl.
Transl Vis Sci Technol
; 12(4): 17, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058101