Detalhe da pesquisa
1.
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Hum Genet
; 140(8): 1143-1156, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974130
2.
[The ophthalmological expert opinion in different fields of law]. / Das augenärztliche Gutachten in unterschiedlichen Rechtsgebieten.
Klin Monbl Augenheilkd
; 237(6): 805-823, 2020 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-32303072
3.
[The Bardet-Biedl Syndrome - Diagnosis and Follow-up]. / Bardet-Biedl-Syndrom Diagnose und klinischer Verlauf.
Klin Monbl Augenheilkd
; 237(3): 239-247, 2020 Mar.
Artigo
em Alemão
| MEDLINE | ID: mdl-32182628
4.
[(Neuro-)ophthalmogical aspects of driving ability]. / Fahreignung aus (neuro)ophthalmologischer Sicht.
Fortschr Neurol Psychiatr
; 86(1): 28-36, 2018 01.
Artigo
em Alemão
| MEDLINE | ID: mdl-29342484
5.
[Radiation Cataract as an Occupational Disease Due to Cumulative Effects of Chronic Radiation Exposure in Ophthalmological Evaluation]. / Die Strahlenkatarakt als Berufskrankheit infolge kumulativer Wirkung chronischer Strahlungsexposition in der augenärztlichen Begutachtung.
Klin Monbl Augenheilkd
; 2022 Nov 11.
Artigo
em Alemão
| MEDLINE | ID: mdl-36368662
6.
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Am J Hum Genet
; 93(1): 110-7, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746546
7.
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10TâC Mutation in Stargardt Disease.
Ophthalmology
; 123(6): 1375-85, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26976702
8.
[How Can the Percentage of Vision in Criminal Law be Handled by the Medical Expert According to the Current State of Medicine?] / Wie kann die Prozentangabe des Sehvermögens im Strafrecht durch den medizinischen Sachverständigen nach dem aktuellen Stand der Medizin gehandhabt werden?
Klin Monbl Augenheilkd
; 238(3): 311-313, 2021 Mar.
Artigo
em Alemão
| MEDLINE | ID: mdl-33242885
9.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Mol Vis
; 20: 753-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24940029
10.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946133
11.
High-addition segmented refractive bifocal intraocular lens in inactive age-related macular degeneration: A multicenter pilot study.
PLoS One
; 16(9): e0256985, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34473779
12.
Use of fundus perimetry (microperimetry) to quantify macular sensitivity.
Prog Retin Eye Res
; 27(5): 536-48, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18723109
13.
[Comparison of visual acuity measurement with Landolt rings versus numbers]. / Vergleich der Sehschärfenbestimmung mit Landolt-Ringen versus Zahlen.
Ophthalmologe
; 116(11): 1058-1063, 2019 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-30927070
14.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Invest Ophthalmol Vis Sci
; 59(8): 3220-3231, 2018 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971439
15.
Microperimetric assessment of patients with type 2 idiopathic macular telangiectasia.
Invest Ophthalmol Vis Sci
; 48(8): 3788-95, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17652753
16.
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Invest Ophthalmol Vis Sci
; 48(12): 5690-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18055821
17.
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
18.
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Invest Ophthalmol Vis Sci
; 47(3): 1167-76, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16505055
19.
Autologous translocation of the choroid and retinal pigment epithelium in age-related macular degeneration.
Am J Ophthalmol
; 142(1): 17-30, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16815247
20.
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Eur J Hum Genet
; 24(3): 459-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26153215