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.
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
3.
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
Ophthalmic Res
; 63(3): 234-243, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775146
4.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
5.
[Hereditary Optic Neuropathies]. / Erbliche Sehnerverkrankungen.
Klin Monbl Augenheilkd
; 235(6): 747-763, 2018 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-29490390
6.
Influence of chloroquine intake on the multifocal electroretinogram in patients with and without maculopathy.
Doc Ophthalmol
; 130(3): 211-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637045
7.
Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.
Graefes Arch Clin Exp Ophthalmol
; 253(8): 1245-50, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25338278
8.
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.
Mol Cell Biol
; 27(4): 1370-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17130236
9.
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
J Mol Med (Berl)
; 85(2): 163-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17031679
10.
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Invest Ophthalmol Vis Sci
; 58(1): 394-403, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28118664
11.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Mol Genet Genomic Med
; 5(5): 531-552, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944237
12.
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
13.
Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis.
PLoS One
; 10(5): e0127204, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25992714
14.
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.
PLoS One
; 9(11): e111754, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25383878
15.
A child with night blindness: preventing serious symptoms of Refsum disease.
J Child Neurol
; 27(5): 654-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22156782
16.
Effects of the AMPA antagonist ZK 200775 on visual function: a randomized controlled trial.
PLoS One
; 5(8): e12111, 2010 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20711429
17.
Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.
Invest Ophthalmol Vis Sci
; 51(2): 1106-15, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20007830
18.
Ocular syphilis--indicator of previously unknown HIV-infection.
J Infect
; 58(1): 32-6, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19081634
19.
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Ophthalmic Genet
; 30(2): 96-8, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373681