Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Marija, Volk"'
Publikováno v:
Stresses, Vol 3, Iss 1, Pp 387-396 (2023)
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 similarit
Externí odkaz:
https://doaj.org/article/0274a09f576941e7b37d146cd93c9f8a
Autor:
Rok Šega, Jan Burgar, Ana Fakin, Sanja Petrović Pajić, Marija Volk, Marko Hawlina, Damjan Glavač, Martina Jarc-Vidmar
Publikováno v:
Zdravniški Vestnik, Vol 91, Iss 9-10, Pp 398-411 (2022)
Leberjeva hereditarna optična nevropatija (LHON) je redka dedna mitohondrijska bolezen, ki povzroča slepoto najpogosteje pri mladih odraslih. Navadno se izrazi kot subakutna, neboleča izguba vida na eno oko, ki ji sledi poslabšanje vida drugega o
Externí odkaz:
https://doaj.org/article/e080871493b34bec8e4b962f8cdcfc1a
Autor:
Sanja Petrovic Pajic, Martina Jarc-Vidmar, Ana Fakin, Maja Sustar Habjan, Jelka Brecelj, Marija Volk, Ales Maver, Borut Peterlin, Marko Hawlina
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundWe present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recent
Externí odkaz:
https://doaj.org/article/43fe4c9e4e57462ab88305f12e2a93be
Autor:
Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin
Publikováno v:
Current Issues in Molecular Biology, Vol 43, Iss 2, Pp 941-957 (2021)
Achromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the cl
Externí odkaz:
https://doaj.org/article/03a53d643e1c4691a3b5b808ece7493a
Autor:
Martina Jarc-Vidmar, Damjan Glavač, Marko Hawlina, Marija Volk, Sanja Petrović Pajić, Ana Fakin, Jan Burgar, Rok Šega
Publikováno v:
Slovenian Medical Journal. :1-14
Leberjeva hereditarna optična nevropatija (LHON) je redka dedna mitohondrijska bolezen, ki povzroča slepoto najpogosteje pri mladih odraslih. Navadno se izrazi kot subakutna, neboleča izguba vida na eno oko, ki ji sledi poslabšanje vida drugega o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7275ace054d5a19446ccf9621cba50ec
https://doi.org/10.6016/zdravvestn.3234
https://doi.org/10.6016/zdravvestn.3234
Autor:
Jana Sajovic, Andrej Meglič, Marija Volk, Aleš Maver, Martina Jarc-Vidmar, Marko Hawlina, Ana Fakin
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 291
Volume 14
Issue 2
Pages: 291
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-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39869d77244888a8841aee658c8d3505
Publikováno v:
International journal of molecular sciences. 24(1)
The pathogenic variant p.G90D in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e34589354863b795cc7390910e402e50
https://pubmed.ncbi.nlm.nih.gov/36614223
https://pubmed.ncbi.nlm.nih.gov/36614223
Autor:
Sanja Petrovic Pajic, Luka Lapajne, Bor Vratanar, Ana Fakin, Martina Jarc-Vidmar, Maja Sustar Habjan, Marija Volk, Ales Maver, Borut Peterlin, Marko Hawlina
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 20; Pages: 6045
(1) Background: The purpose of this study was to evaluate the thickness of retinal layers in Leber hereditary optic neuropathy (LHON) in the atrophic stage compared with presumably inherited bilateral optic neuropathy of unknown cause with the aim of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7573062bdbcd31a2c6d64ee401474c65
https://pubmed.ncbi.nlm.nih.gov/36294366
https://pubmed.ncbi.nlm.nih.gov/36294366
Autor:
Gorazd Rudolf, Nataša Tul, Ivan Verdenik, Marija Volk, Anamarija Brezigar, Nadja Kokalj Vokač, Nataša Jeršin, Bernarda Prosenc, Tanja Premru Sršen, Borut Peterlin
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0180348 (2017)
To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia.Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospective
Externí odkaz:
https://doaj.org/article/02080b1c91a7450dac683e5a4f142509
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 1; Pages: 780
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, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e727d2f38e770bebe32b496425e8cdb3
https://doi.org/10.3390/ijms24010780
https://doi.org/10.3390/ijms24010780