Detalhe da pesquisa
1.
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes.
J Med Genet
; 61(3): 224-231, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798099
2.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; : 101106, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420906
3.
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
4.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Mol Vis
; 29: 1-12, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287645
5.
Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.
Adv Exp Med Biol
; 1415: 183-187, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440032
6.
Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa.
Adv Exp Med Biol
; 1415: 365-370, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440058
7.
Factors Affecting Readthrough of Natural Versus Premature Termination Codons.
Adv Exp Med Biol
; 1415: 149-155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440028
8.
Cortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia.
J Neurosci
; 41(35): 7363-7371, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349002
9.
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
10.
Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.
Mol Vis
; 28: 359-368, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36338669
11.
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Mol Vis
; 28: 21-28, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35400991
12.
Autoimmune retinopathy: clinical, electrophysiological, and immunological features in nine patients with long-term follow-up.
Graefes Arch Clin Exp Ophthalmol
; 260(3): 975-991, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34591174
13.
Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype-phenotype correlation.
Graefes Arch Clin Exp Ophthalmol
; 260(11): 3471-3478, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501492
14.
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
Int J Mol Sci
; 23(7)2022 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35408898
15.
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Mol Vis
; 27: 588-600, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703197
16.
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
17.
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Retina
; 41(10): 2179-2187, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512896
18.
Cell-Based Therapies for Age-Related Macular Degeneration.
Adv Exp Med Biol
; 1256: 265-293, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848006
19.
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Hum Mutat
; 41(1): 140-149, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31456290
20.
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
Hum Mol Genet
; 27(4): 614-624, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29272404