Št. zadetkov: 15
Izvirni znanstveni članek
Oznake:
swords;machairas;Iron Age;gravefields;cremation burials;archaeology;Slovenia;
Grave with a machaira from Most na Soči
Leto:
2005
Vir:
Univerza na Primorskem (UP)
Izvirni znanstveni članek
Oznake:
Usherjev sindrom;USH2A;pigmentni retinitis;avtofluorescenčni fundus;preskok terapije exon;Usher syndrome;retinitis pigmentosa;fundus autofluorescence;exon skipping therapy;
The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had follow-up data (median of ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Končno poročilo o rezultatih raziskav
Oznake:
oftalmologija;
Izhodišče: Patogene različice v genu za rodopsin (RHO) največkrat povzročajo različne
oblike pigmentne retinopatije (RP), ki je napredujoča degeneracija mrežnice, redkeje
pa kongenitalno stacionarno nočno slepoto (CSNB). Do sedaj je bilo predpostavljeno,
da posamezna različica povzroča bodisi eno ...
Leto:
2021
Vir:
Medicinska fakulteta (UL MF)
Pregledni znanstveni članek
Oznake:
vitamin A;retinal diseases;ABCA4;
Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is essential for several physiological processes. Either hyper- or hypovitaminosis can be harmful. One of the most important vitamin A functions is its involvement in visual phototransduction, where it serves as ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
retinitis pigmentosa;RP;vitamin A;CSNB;NBWD;congenital stationary night blindness;rhodopsin;RHO;sector RP;treatment;
The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between th ...
Leto:
2023
Vir:
Repozitorij Univerze v Ljubljani (RUL)
Izvirni znanstveni članek
Oznake:
DRAM2;inherited retinal dystrophy;genetic spectrum;phenotype variability;genotype– phenotype correlation;fundus autofluorescence imaging;electrophysiology;
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
Pregledni znanstveni članek
Oznake:
extracellular vesicles;bioactive molecules;cornea;dry eye disease;miRNA;mesenchymal stem cells;ophthalmology;
Cell-based therapies emerge as potential treatment options for various debilitating diseases. Preclinical research and clinical studies involving cells increased exponentially in the past decade. In addition to cell-based approaches, the use of extracellular vesicles (EVs), which are released by nea ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
long-term follow-up;STGD1;ERG groups;fishman stages;DDAF area;genotype-phenotype correlations;
Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
WDR19;IFT144;Stargardt disease;Stargardt-like disease;fundus flavimaculaus;ABCA4;phenocopy;
Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p.(Ser485Ile) and a novel c.(3183+1_3184-1)_(3261+1_3262-1)del variant, with 43 ABCA4-Starg ...
Leto:
2023
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
USH2A;haplotypic variability;homozygous mutation;
Purpose: to determine a detailed clinical and haplotypic variability of the Slovenian USH2A patients with homozygous c.11864G>A (p.Trp3955Ter) nonsense mutation and to develop sensitive, accurate and rapid screening test. Methods: Ten unrelated homozygous patients with detailed ophthalmological exam ...
Leto:
2019
Vir:
Medicinska fakulteta (UL MF)