Search details
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.
Article
in English
| MEDLINE | ID: mdl-35759666
2.
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
Ophthalmology
; 131(2): 161-178, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37704110
3.
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Hum Genet
; 140(8): 1157-1168, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-33959807
4.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J
; 33(10): 11507-11527, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31345061
5.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30825406
6.
Splitting of the lateral rectus muscle with medial transposition to treat oculomotor palsy: a retrospective analysis of 29 consecutive cases.
Graefes Arch Clin Exp Ophthalmol
; 257(9): 2005-2014, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31172264
7.
[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations]. / Das phänotypische Spektrum der Augenveränderungen bei CEP290-Sequenzvariationen.
Klin Monbl Augenheilkd
; 236(3): 244-252, 2019 Mar.
Article
in German
| MEDLINE | ID: mdl-30897646
8.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Article
in English
| MEDLINE | ID: mdl-26593267
9.
[Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance]. / Überblick über die kongenitale stationäre Nachtblindheit mit überwiegend normalem Fundus.
Klin Monbl Augenheilkd
; 235(3): 281-289, 2018 Mar.
Article
in German
| MEDLINE | ID: mdl-29390235
10.
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials.
Ophthalmic Res
; 58(4): 194-202, 2017.
Article
in English
| MEDLINE | ID: mdl-28697496
11.
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Hum Mol Genet
; 23(6): 1538-50, 2014 Mar 15.
Article
in English
| MEDLINE | ID: mdl-24163243
12.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22325361
13.
Shared decision-making, control preferences and psychological well-being in patients with RPE65 deficiency awaiting experimental gene therapy.
Ophthalmic Res
; 54(2): 96-102, 2015.
Article
in English
| MEDLINE | ID: mdl-26278420
14.
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Hum Mol Genet
; 26(2): 466, 2017 01 15.
Article
in English
| MEDLINE | ID: mdl-28365780
15.
Normative values of peripheral retinal thickness measured with Spectralis OCT in healthy young adults.
Graefes Arch Clin Exp Ophthalmol
; 252(8): 1195-205, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24514757
16.
[Reduced Visual Acuity at the Age of 3 Years and Flat Unilateral Retinal Detachment at the Age of 9 Years - History of a Child with Compound Heterozygous RP1 Mutations]. / Beidseitige Sehminderung im 3. Lebensjahr gefolgt von einseitiger flacher Netzhautablösung im 9. Lebensjahr klinischer Verlauf bei einem Kind mit Compound heterozygoten RP1-Mutationen.
Klin Monbl Augenheilkd
; 236(3): 286-288, 2019 Mar.
Article
in German
| MEDLINE | ID: mdl-30897647
17.
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.
Article
in English
| MEDLINE | ID: mdl-23946133
18.
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 85(5): 720-9, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19896113
19.
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Mol Vis
; 17: 939-48, 2011 Apr 15.
Article
in English
| MEDLINE | ID: mdl-21541274
20.
Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Ophthalmology
; 118(5): 888-94, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21211845