Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jana Sajovic"'
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Vlasta Hadalin, Maša Buscarino, Jana Sajovic, Andrej Meglič, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3840 (2023)
Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 families with retinitis pigmentosa (RP) or cone/cone-rod dystrophy (COD/CORD) are reported. RP (eight families) w
Externí odkaz:
https://doaj.org/article/79b949f16bab4a478aff52d19e31abd3
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 16161 (2022)
The aim of the present study is to determine how electroretinographic (ERG) responses reflect age-related disease progression in the Stargardt disease (STGD1). The prospective comparative cohort study included 8 patients harboring two null ABCA4 vari
Externí odkaz:
https://doaj.org/article/4378a909d3c5470caaa0253439ed351c
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1014 (2022)
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 involvemen
Externí odkaz:
https://doaj.org/article/71315f43ef8e4bf494071821fc461432
Autor:
Vidmar, Jana Sajovic, Andrej Meglič, Ana Fakin, Jelka Brecelj, Maja Šuštar Habjan, Marko Hawlina, Martina Jarc
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1394
Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum
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-
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 652
The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozyg
Autor:
Mojca Globočnik Petrovič, Špela Tajnšek, Daniel Petrovič, Tanja Kunej, Ines Cilenšek, Jana Sajovic, Sara Mankoč
Publikováno v:
Bosnian Journal of Basic Medical Sciences (2018)
Vascular endothelial growth factor (VEGF) is an important regulator of angiogenesis and has been investigated as a candidate gene in a number of conditions, including diabetes and its microvascular complications (e.g., retinopathy and nephropathy). S
Autor:
Vlasta Hadalin, Marija Volk, Marko Hawlina, Aleš Maver, Maja Sustar, Jana Sajovic, Borut Peterlin, Martina Jarc-Vidmar, Ana Fakin
Publikováno v:
Genes
Volume 12
Issue 4
Genes, Vol 12, Iss 499, p 499 (2021)
Volume 12
Issue 4
Genes, Vol 12, Iss 499, p 499 (2021)
Mutations in RPGRORF15 are associated with rod-cone or cone/cone-rod dystrophy, the latter associated with mutations at the distal end. We describe the phenotype associated with a novel variant in the terminal codon of the RPGRORF15 c.3457T>
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