Št. zadetkov: 22
Diplomsko delo
Oznake:
hendikep;deinstitucionalizacija;skupnostna skrb;skupnostne službe;inovativne metode;
Mreža služb socialnovarstvenih storitev na območju Šaleške doline ter njihov vpliv na uporabnike
Leto:
2010
Vir:
Fakulteta za socialno delo (UL FSD)
Doktorska disertacija
Oznake:
kromosomopatije;anevploidija;transkriptom;biološki označevalci;diagnostični markerji;gensko izražanje;amniociti;horijeve resice;kariotip;
Kromosomske bolezni predstavljajo pomemben zdravstveni problem, saj so v predrojstnem obdobju pogosto povezane z razvojnimi nepravilnostmi ali s spontano izgubo nosečnosti. Številčne kromosomske nepravilnosti avtosomov niso združljive z življenjem, razen trisomije kromosoma 21, 18 in 13 (T21, T18, T ...
Leto:
2019
Vir:
Medicinska fakulteta (UL MF)
Kratki znanstveni prispevek
Oznake:
mitochondrial optic neuropathy;OPA3;cystic fibrosis;
The striking similarity of disc edema without leakage on fluorescein angiography, which is pathognomonic of Leber hereditary optic neuropathy (LHON), was present in a patient with cystic fibrosis with antibiotic toxic optic neuropathy. This similarity suggested the common effect of oxidative stress ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
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)
Kratki znanstveni prispevek
Oznake:
COQ2-related retinopathy;uveitis;rare disease;
Purpose: To describe an atypical presentation of COQ2-related retinopathy in identical twins withnephropathy, mimicking intermediate uveitis with cystoid macular oedema (CMO).Methods: Retrospective case report.Results: A 33-year-old man presented with bilateral vision worsening and suspected interme ...
Leto:
2026
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Marija Volk,
Karin Writzl,
Alenka Veble,
Helena Jaklič,
Nataša Teran,
Bernarda Prosenc,
Martin Štimpfel,
Irma Virant-Klun,
Eda Vrtačnik-Bokal,
Helena Ban,
Borut Peterlin
Izvirni znanstveni članek
Oznake:
chromosome aberration;embryo biopsy;in vitro fertilization;monogenic disease;preimplantation genetic testing;
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Sanja Petrović Pajić,
Ana Fakin,
Martina Jarc-Vidmar,
Maja Šuštar,
Lucija Malinar,
Kasja Pavlovic,
Nina Krako Jakovljevic,
Marija Volk,
Aleš Maver,
Gregor Jezernik,
Damjan Glavač,
Borut Peterlin,
Marko Hawlina
Izvirni znanstveni članek
Oznake:
LHON;gene;electrophysiology;retinal segmentation;VA improvement;mitochondrial disfunction;proteomic analysis;
Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed an ...
Leto:
2025
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)