Detalhe da pesquisa
1.
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Hum Mol Genet
; 32(3): 431-449, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997788
2.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
J Med Genet
; 61(2): 186-195, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734845
3.
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
4.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Hum Mol Genet
; 30(13): 1218-1229, 2021 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891002
5.
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Genet Med
; 25(12): 100979, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37689994
6.
Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.
Exp Eye Res
; 226: 109349, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516904
7.
An early onset cone dystrophy due to CEP290 mutation: a case report.
Doc Ophthalmol
; 147(3): 203-209, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642804
8.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet
; 59(10): 1027-1034, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091433
9.
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Int J Mol Sci
; 24(10)2023 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240262
10.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Int J Mol Sci
; 24(3)2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769033
11.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Hum Genet
; 141(3-4): 785-803, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34148116
12.
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
13.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology
; 129(6): 708-718, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35157951
14.
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Int J Mol Sci
; 23(12)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743313
15.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Hum Mutat
; 42(6): 641-666, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847019
16.
Identification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide-Gated A3 Channels.
Mol Pharmacol
; 99(6): 460-468, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827965
17.
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
18.
Clinical Protocols for the Evaluation of Rod Function.
Ophthalmologica
; 244(5): 396-407, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32805733
19.
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Int J Mol Sci
; 22(10)2021 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065499
20.
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
Int J Mol Sci
; 22(2)2021 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33467000