Detalhe da pesquisa
1.
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.
Mol Ther
; 31(10): 2948-2961, 2023 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580905
2.
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Genet Med
; 24(7): 1523-1535, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486108
3.
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Mol Vis
; 27: 107-116, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907366
4.
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Am J Hum Genet
; 99(3): 777-784, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588452
5.
Contrary to popular belief, chinchillas do not have a pure rod retina.
Vet Ophthalmol
; 22(1): 93-97, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29888430
6.
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Genet Med
; 20(9): 1004-1012, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300381
7.
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Ophthalmology
; 125(5): 725-734, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276052
8.
Can an in vivo imaging system be used to determine localization and biodistribution of AAV5-mediated gene expression following subretinal and intravitreal delivery in mice?
Exp Eye Res
; 176: 227-234, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171858
9.
Consecutive unilateral recording of the two eyes affects dark-adapted ERG responses, when compared to simultaneous bilateral recording.
Doc Ophthalmol
; 137(3): 183-192, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411184
10.
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Ophthalmology
; 124(7): 992-1003, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412069
11.
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia.
Mol Ther
; 23(9): 1423-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26087757
12.
Retinal Phenotype following Combined Deletion of the Chemokine Receptor CCR2 and the Chemokine CX3CL1 in Mice.
Ophthalmic Res
; 55(3): 126-34, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670885
13.
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Hum Mutat
; 36(9): 836-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077327
14.
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
15.
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Am J Hum Genet
; 99(5): 1222-1223, 2016 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27814526
16.
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation.
Doc Ophthalmol
; 129(3): 141-50, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204753
17.
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
Am J Hum Genet
; 87(3): 382-91, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20705279
18.
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant.
Ophthalmol Sci
; 3(1): 100229, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420180
19.
Survival of Neural Progenitors Derived from Human Embryonic Stem Cells Following Subretinal Transplantation in Rodents.
J Ocul Pharmacol Ther
; 39(5): 347-358, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140896
20.
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
Transl Vis Sci Technol
; 12(3): 3, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36857066