Št. zadetkov: 11
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)
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:
Medicinska fakulteta (UL MF)
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:
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)
Izvirni znanstveni članek
Oznake:
USH2A-retinopathy;double hyperautofluorescent rings;electrophysiology;
USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pat ...
Leto:
2019
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
retinoschisis;X-linked retinoschisis;
Aims: To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements in gene therapy trials. Methods: This retrospective multicentre study included 49 eyes from 25 patients diagnosed with XLRS. D ...
Leto:
2024
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Maja Potrč,
Marija Volk,
Matteo de Rosa,
Jože Pižem,
Nataša Teran,
Helena Jaklič,
Aleš Maver,
Brigita Drnovšek-Olup,
Michela Bollati,
Katarina Vogelnik,
Alojzija Hočevar,
Ana Gornik,
Vladimir Pfeifer,
Borut Peterlin,
Marko Hawlina,
Ana Fakin
Izvirni znanstveni članek
Oznake:
gelsolin mayloidosis;Meretoja syndrome;GSN;cutis laxa;heart arrhythmia;lattice corneal dystrophy;optic neuropathy;optical coherence tomography;
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of ...
Leto:
2021
Vir:
Medicinska fakulteta (UL MF)