Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ana Ćurić"'
Publikováno v:
Diagnostics, Vol 14, Iss 15, p 1583 (2024)
We present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p. (Met1?), which is pathogenic,
Externí odkaz:
https://doaj.org/article/3f896e890cfe4cf287dcf02136dd0492
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6442 (2024)
We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmen
Externí odkaz:
https://doaj.org/article/d273b8da6bbf4bdba0f4a5eab4fe704e
Publikováno v:
Vision, Vol 8, Iss 2, p 39 (2024)
The purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the children were recruited from the Croatian National Regi
Externí odkaz:
https://doaj.org/article/aeb93cbaf14049a49dfa7bef09703d5e
Autor:
Jurica Predović, Damir Bosnar, Leon Marković, Ana Ćurić, Josipa Bračić, Thomas Georgi, Wolfgang List, Wilfried Glatz, Domagoj Ivastinovic
Publikováno v:
PLoS ONE, Vol 19, Iss 4 (2024)
Externí odkaz:
https://doaj.org/article/84d73ff1a58043bba7a925cd66130d96
Publikováno v:
Current Issues in Molecular Biology, Vol 44, Iss 12, Pp 6397-6403 (2022)
RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle. In patients with inherited retin
Externí odkaz:
https://doaj.org/article/ff308e9bf8cd4743a613e65277261aa3
Autor:
Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Benedict Rak, Biljana Kuzmanović Elabjer, Leon Marković
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 15, p 11889 (2023)
Pathogenic variants in IMPDH1 are associated with autosomal dominant retinitis pigmentosa 10 (RP10), and Leber congenital amaurosis 11. This case report of a 13-year-old girl with Down’s syndrome and keratoglobus is aimed at linking the novel varia
Externí odkaz:
https://doaj.org/article/189450ac510e4a82b2959205a7e98301
Autor:
Mirjana Bjeloš, Mladen Bušić, Ana Ćurić, Damir Bosnar, Borna Šarić, Leon Marković, Biljana Kuzmanović Elabjer, Benedict Rak
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2022 (2022)
Background. Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant
Externí odkaz:
https://doaj.org/article/bd3f860e0b404f48a9b421b786377d6d
Autor:
Ana Ćurić, Mirjana Bjeloš, Mladen Bušić, Biljana Kuzmanović Elabjer, Benedict Rak, Nenad Vukojević
Publikováno v:
Diagnostics, Vol 12, Iss 10, p 2449 (2022)
The purpose of the study was to investigate the long-term effects of uncomplicated phacoemulsification on macular perfusion using optical coherence tomography angiography (OCTA) in healthy aging subjects. OCTA was performed before phacoemulsification
Externí odkaz:
https://doaj.org/article/c88928cfc0a340d184742c9a789cdbed
Autor:
Mirjana Bjeloš, Mladen Bušić, Ana Ćurić, Borna Šarić, Damir Bosnar, Leon Marković, Biljana Kuzmanović Elabjer, Benedict Rak
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10513 (2022)
Precise genetic diagnosis in RPE65-mediated retinitis pigmentosa (RP) is necessary to establish eligibility for genetic treatment with voretigene neparvovec: a recombinant adeno-associated viral vector providing a functional RPE65 gene. This case rep
Externí odkaz:
https://doaj.org/article/06f484ddc19f40f98aef2326cb82fa5f
Autor:
Mirjana Bjeloš, Mladen Bušić, Ana Ćurić, Damir Bosnar, Borna Šarić, Leon Marković, Biljana Kuzmanović Elabjer, Benedict Rak
Publikováno v:
Ophthalmic Genetics. 44:276-280
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ded8fa1a897579d3751bfeb7a7e2b057
https://doi.org/10.1080/13816810.2022.2106496
https://doi.org/10.1080/13816810.2022.2106496