Detalhe da pesquisa
1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
2.
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Mov Disord
; 39(4): 715-722, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357851
3.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Int J Mol Sci
; 24(19)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834164
4.
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
BMC Med Genet
; 19(1): 107, 2018 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940872
5.
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Hum Mol Genet
; 24(19): 5486-99, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188004
6.
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Nat Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684900
7.
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
NPJ Parkinsons Dis
; 9(1): 156, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37996455
8.
Splicing mutations in inherited retinal diseases.
Prog Retin Eye Res
; 80: 100874, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553897
9.
Efficient hybrid de novo assembly of human genomes with WENGAN.
Nat Biotechnol
; 39(4): 422-430, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318652
10.
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
NPJ Genom Med
; 9(1): 28, 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704370
11.
Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
NPJ Parkinsons Dis
; 9(1): 168, 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110362
12.
Corrigendum to "Splicing mutations in inherited retinal diseases" [Prog. Retin. Eye Res. 80 (2021) 100874].
Prog Retin Eye Res
; 88: 101019, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802914
13.
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.
Parkinsonism Relat Disord
; 95: 54-56, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35030450
14.
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Sci Rep
; 6: 28253, 2016 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27339364