Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Kamil Szulborski"'
Autor:
Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik, Monika Ołdak
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0183866 (2017)
Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected.
Externí odkaz:
https://doaj.org/article/9d48c48c9afd4fd5ac640105becaee10
Autor:
Kalina Burnat, Michal Wieteska, Kamil Szulborski, Anna Kozak, Jacek P. Szaflik, Marco Ninghetto, Tomasz Gałecki
Publikováno v:
Translational Vision Science & Technology
Purpose Damage of retinal representation of the visual field affects its local features and the spared, unaffected parts. Measurements of visual deficiencies in ophthalmological patients are separated for central (shape) or peripheral (motion and spa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc8074ce92564efa77f319209521e81
http://europepmc.org/articles/PMC7794260
http://europepmc.org/articles/PMC7794260
Autor:
Jacek P. Szaflik, Mariusz Furmanek, Anna Sarosiak, Henryk Skarżyński, Monika Ołdak, Kamil Szulborski, Natalia Bałdyga, Dominika Oziębło
Publikováno v:
Audiologyneuro-otology. 26(4)
Background: Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. Objective: The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bc258879f6a279ecc6412ac20270db
https://pubmed.ncbi.nlm.nih.gov/33352548
https://pubmed.ncbi.nlm.nih.gov/33352548
Autor:
Aneta, Ścieżyńska, Marta, Soszyńska, Michał, Komorowski, Anna, Podgórska, Natalia, Krześniak, Aleksandra, Nogowska, Martyna, Smolińska, Kamil, Szulborski, Jacek P, Szaflik, Bartłomiej, Noszczyk, Monika, Ołdak, Jacek, Malejczyk
Publikováno v:
International Journal of Molecular Sciences
ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina. Therefore, studying the funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9ba1119ce9d2e41f8b881decda843eb
https://pubmed.ncbi.nlm.nih.gov/32413971
https://pubmed.ncbi.nlm.nih.gov/32413971
Autor:
Jacek P. Szaflik, Kamil Szulborski, Jerzy Szaflik, Anna M. Ambroziak, Magdalena Korwin, Piotr Stawiński, Dominika Oziębło, Aneta Ścieżyńska, Monika Ołdak, Rafał Płoski, Maciej R Krawczyński
Publikováno v:
Experimental Eye Research. 145:93-99
Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic retinal diseases. The study aimed to discover causative ABCA4 mutations in a large but not previously investigated cohort with ABCA4-related diseases originating from C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c3e4c267612c4d6f437b42bb000ebd
https://doi.org/10.1016/j.exer.2015.11.011
https://doi.org/10.1016/j.exer.2015.11.011
Autor:
Monika Ołdak, Aleksandra Nogowska, Bartłomiej Noszczyk, Kamil Szulborski, Martyna Smolińska, Anna Podgórska, Natalia Krześniak, Jacek P. Szaflik, Jacek Malejczyk, Michal Komorowski, Aneta Ścieżyńska, Marta Soszyńska
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 10
International Journal of Molecular Sciences, Vol 21, Iss 3430, p 3430 (2020)
Volume 21
Issue 10
International Journal of Molecular Sciences, Vol 21, Iss 3430, p 3430 (2020)
ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina. Therefore, studying the funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972d650f14b882ca2e68239f005a58ae
https://doi.org/10.3390/ijms21103430
https://doi.org/10.3390/ijms21103430
Autor:
Monika, Ołdak, Ewelina, Ruszkowska, Sylwia, Siwiec, Agnieszka, Pollak, Piotr, Stawiński, Kamil, Szulborski, Jacek P, Szaflik
Publikováno v:
Klinika oczna. 118(2)
The aim of the study was to identify the genetic background of retinitis pigmentosa in a Polish family with previously excluded involvement of the majority of known genes for this disease, except for the ORF15 exon in the RPGR gene (Xp21.1). ORF15 is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::29a2b714aeb7f76002f100cd5f97535f
https://pubmed.ncbi.nlm.nih.gov/29912501
https://pubmed.ncbi.nlm.nih.gov/29912501
Publikováno v:
Metabolic Brain Disease
We evaluated correlations between positive findings of changes on brain magnetic resonance imaging (MRI) and selected morphological and electrophysiological parameters of the retinal and visual systems in Wilson’s disease. Fifty-eight Wilson’s di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babc65136c5b62d6981308d4d8efe578
https://doi.org/10.1007/s11011-015-9776-8
https://doi.org/10.1007/s11011-015-9776-8
Publikováno v:
Videosurgery and other Miniinvasive Techniques
We present a case of diagnostic and surgical management in an amblyopic eye following penetrating trauma in childhood. The 75-year-old female patient experienced the trauma at the age of 4. The eye was amblyopic, but after thorough investigations (ul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48467381b019edcbd099c379f9b848ac
https://doi.org/10.5114/wiitm.2015.55690
https://doi.org/10.5114/wiitm.2015.55690
Autor:
Monika Ołdak, Kamil Szulborski, Katarzyna Rydz, Aneta Ścieżyńska, Joanna Wierzbowska, Marek Rękas, Joanna Kosińska, Rafał Płoski, Ewelina Ruszkowska, Jacek P. Szaflik
Publikováno v:
PLoS ONE
PLoS ONE, Vol 12, Iss 8, p e0183866 (2017)
PLoS ONE, Vol 12, Iss 8, p e0183866 (2017)
Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::675f58d1061295ca8ca80ca919edf069
http://europepmc.org/articles/PMC5571936
http://europepmc.org/articles/PMC5571936