Detalles de la búsqueda
1.
Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.
J Neuroophthalmol;
43(3): 341-347, 2023 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36897664
2.
Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A.
Int J Mol Sci;
24(1)2023 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36614223
3.
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.
Int J Mol Sci;
24(4)2023 Feb 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36835250
4.
Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.
Int J Mol Sci;
23(24)2022 Dec 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36555803
5.
The Role of Vitamin A in Retinal Diseases.
Int J Mol Sci;
23(3)2022 Jan 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-35162940
6.
The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
Int J Mol Sci;
23(13)2022 Jul 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35806404
7.
Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Curr Issues Mol Biol;
43(2): 941-957, 2021 Aug 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-34449556
8.
Autologous neurosensory free-flap retinal transplantation for refractory chronic macular hole-outcomes evaluated by OCT, microperimetry, and multifocal electroretinography.
Graefes Arch Clin Exp Ophthalmol;
259(6): 1443-1453, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33090282
9.
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Int J Mol Sci;
22(4)2021 Feb 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33669941
10.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Int J Mol Sci;
22(19)2021 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34638692
11.
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.
Int J Mol Sci;
22(3)2021 Jan 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33499149
12.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med;
22(7): 1235-1246, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32307445
13.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med;
21(8): 1761-1771, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30670881
14.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med;
21(8): 1751-1760, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30643219
15.
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
Doc Ophthalmol;
139(2): 151-160, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31267413
16.
Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy.
Doc Ophthalmol;
130(3): 179-87, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25690485
17.
Face Recognition Characteristics in Patients with Age-Related Macular Degeneration Determined Using a Virtual Reality Headset with Eye Tracking.
J Clin Med;
13(2)2024 Jan 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38276142
18.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules;
14(3)2024 Mar 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38540785
19.
Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.
Genes (Basel);
14(3)2023 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36980924
20.
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
Genes (Basel);
14(2)2023 01 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36833218