Detalhe da pesquisa
1.
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
Ophthalmology
; 131(1): 87-97, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598860
2.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Exp Eye Res
; 244: 109945, 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815792
3.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
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.
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hum Mutat
; 43(12): 2234-2250, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259723
6.
A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.
BMC Genet
; 21(1): 100, 2020 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32894063
7.
Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4.
Nucleic Acid Ther
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38800942
8.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA Ophthalmol
; 142(5): 463-471, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602673
9.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540785
10.
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Genes (Basel)
; 14(1)2023 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672932
11.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107
12.
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Invest Ophthalmol Vis Sci
; 63(4): 20, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475888
13.
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
Genes (Basel)
; 12(11)2021 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828377