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1.
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
2.
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
J Neuroophthalmol
; 40(4): 558-565, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32991388
3.
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
4.
[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
5.
[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
6.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Am J Med Genet A
; 173(4): 959-965, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28328125
7.
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
8.
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
9.
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
10.
[10 years of screening for retinopathy of prematurity (2009-2019) : Results analysis of two German level-1 neonatal intensive care units (NICUs) with university on-site screening and a telemedical approach in the non-university NICU]. / 10 Jahre Screening auf Frühgeborenenretinopathie (20092019) : Ergebnisanalyse zweier deutscher Level-1-Perinatalzentren mit universitärem Vor-Ort-Screening und telemedizinischem Ansatz in dem nicht universitären Zentrum.
Ophthalmologie
; 120(9): 920-931, 2023 Sep.
Article
in German
| MEDLINE | ID: mdl-37083751
11.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Am J Med Genet A
; 173(9): 2566, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28816420
12.
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Hum Mutat
; 32(12): 1398-406, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21882291
13.
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
Ophthalmology
; 116(6): 1201-9.e1-2, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19376587
14.
Light responses in the mouse retina are prolonged upon targeted deletion of the HCN1 channel gene.
Eur J Neurosci
; 28(11): 2221-30, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-19019198
15.
Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.
Vision Res
; 42(11): 1475-83, 2002 May.
Article
in English
| MEDLINE | ID: mdl-12044753
16.
Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation.
Transl Vis Sci Technol
; 3(1): 1, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24820053
17.
Improving detection of mild loss of retinal light increment sensitivity at the posterior pole with the microperimeter MP1.
Invest Ophthalmol Vis Sci
; 54(7): 4666-74, 2013 Jul 12.
Article
in English
| MEDLINE | ID: mdl-23716630
18.
Automated segmentation of pathological cavities in optical coherence tomography scans.
Invest Ophthalmol Vis Sci
; 54(6): 4385-93, 2013 Jun 27.
Article
in English
| MEDLINE | ID: mdl-23737469
19.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS One
; 8(11): e78496, 2013.
Article
in English
| MEDLINE | ID: mdl-24265693
20.
Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency.
Invest Ophthalmol Vis Sci
; 53(9): 5641-52, 2012 Aug 17.
Article
in English
| MEDLINE | ID: mdl-22807296