Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
7.
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
8.
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development.
Ophthalmology
; 129(6): 626-636, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031440
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions.
Int J Mol Sci
; 22(23)2021 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884517
15.
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
Int J Mol Sci
; 22(15)2021 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360608
16.
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Int J Mol Sci
; 22(5)2021 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673512
17.
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Hum Mutat
; 41(9): 1514-1527, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531858
18.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
19.
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.
BMC Med Genet
; 21(1): 236, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243194
20.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Brain
; 142(6): 1528-1534, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009037