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2. Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutationAndrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač, 2019, original scientific article Keywords: USH2A, haplotypic variability, homozygous mutation, usher syndrome, founder effect, haplotype analysis, high resolution melting analysis Full text (file, 3,60 MB) This document has more files! More... |
3. Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580LysMaja 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, 2021, original scientific article Keywords: gelsolin amyloidosis, Meretoja syndrome, GSN, cutis laxa, heart arrhythmia, lattice corneal dystrophy, optic neuropathy, optical coherence tomography Full text (file, 2,91 MB) This document has more files! More... |
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5. The role of vitamin A in retinal diseasesJana Sajovic, Andrej Meglič, Damjan Glavač, Špela Markelj, Marko Hawlina, Ana Fakin, 2022, review article Keywords: vitamin A, retinal diseases, ABCA4, visual cycle, RHO, RDH5, RDH12, treatment Full text (file, 2,88 MB) This document has more files! More... |
6. Double hyperautofluorescent rings in patients with USH2A-retinopathyAna Fakin, Maja Šuštar Habjan, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina, 2019, original scientific article Keywords: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy Full text (file, 5,19 MB) This document has more files! More... |
7. The clinical spectrum and disease course of DRAM2 retinopathyTjaša Krašovec, Marija Volk, Maja Šuštar Habjan, Marko Hawlina, Nataša Vidović Valentinčič, Ana Fakin, 2022, original scientific article Keywords: DRAM2, inherited retinal dystrophy, genetic spectrum, phenotype variability, genotype–phenotype correlation, fundus autofluorescence imaging, electrophysiology Full text (file, 8,63 MB) This document has more files! More... |
8. 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 pigmentosaTjaša Krašovec, Nina Kobal, Maja Šuštar Habjan, Marija Volk, Marko Hawlina, Ana Fakin, 2023, original scientific article Keywords: retinitis pigmentosa, RP, vitamin A, CSNB, NBWD, congenital stationary night blindness, rhodopsin, RHO, sector RP, treatment Full text (file, 3,94 MB) This document has more files! More... |