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Št. zadetkov: 8
Grave with a machaira from Most na Soči
Andrej Gaspari, Miha Mlinar, Ana Hawlina
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)
Dejavniki, ki vplivajo na klinično sliko bolnikov s patogeno različico p.G90D gena za rodopsin
Tjaša Krašovec, Nina Kobal, Ana Fakin, Marko Hawlina
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)
ǂThe ǂrole of vitamin A in retinal diseases
Jana Sajovic, Andrej Meglič, Damjan Glavač, Špela Markelj, Marko Hawlina, Ana Fakin, Ana Fakin
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)
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
Tjaša Krašovec, Nina Kobal, Maja Šuštar, Marija Volk, Marko Hawlina, Ana Fakin, Ana Fakin
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)
ǂThe ǂclinical spectrum and disease course of DRAM2 retinopathy
Tjaša Krašovec, Marija Volk, Maja Šuštar, Marko Hawlina, Nataša Vidovič-Valentinčič, Ana Fakin, Ana Fakin
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)
Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation
Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač
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)
Double hyperautofluorescent rings in patients with USH2A-retinopathy
Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina
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)
Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys
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)
Št. zadetkov: 8
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