Detalhe da pesquisa
1.
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Hum Mol Genet
; 32(21): 3078-3089, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37555651
2.
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Am J Hum Genet
; 109(3): 498-507, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120629
3.
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
4.
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
Int J Mol Sci
; 25(11)2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38892127
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.
Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4.
Nucleic Acid Ther
; 34(3): 125-133, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38800942
7.
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
Cells
; 13(7)2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607040
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.
ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.
Invest Ophthalmol Vis Sci
; 64(12): 33, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728905
11.
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
12.
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
HGG Adv
; 4(4): 100237, 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705246
13.
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Sci Rep
; 13(1): 9380, 2023 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296172
14.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Front Genet
; 14: 1234032, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37779911
15.
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
16.
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
NPJ Genom Med
; 6(1): 97, 2021 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34795310
17.
Comparative Gene Expression Analysis of Two Mouse Models of Autism: Transcriptome Profiling of the BTBR and En2 (-/-) Hippocampus.
Front Neurosci
; 10: 396, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27610074