Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ewelina, Ruszkowska"'
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:
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
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
Autor:
Aneta Sciezynska, Monika Udziela, Ewelina Ruszkowska, Monika Ołdak, E. Binczyk, Rafał Płoski, J.P. Szaflik
Publikováno v:
Acta Ophthalmologica. 93
Purpose The aim of the study was to investigate the connection between rs613872 polymorphism in TCF4 gene and Fuchs Endothelial Corneal Dystrophy (FECD), and evaluation of TCF4 gene expression within corneas of patients with FECD and individuals of P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fccff36581c1d20e26a9cfe2b7af88d0
https://doi.org/10.1111/j.1755-3768.2015.0674
https://doi.org/10.1111/j.1755-3768.2015.0674
Autor:
Monika Ołdak, Monika Udziela, Jacek P. Szaflik, Aneta Ścieżyńska, Dominika Oziębło, Ewelina Ruszkowska, E. Binczyk, Rafał Płoski
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2015 (2015)
BioMed Research International, Vol 2015 (2015)
Fuchs endothelial corneal dystrophy (FECD) is a common corneal endotheliopathy with a complex and heterogeneous genetic background. Different variants in theTCF4gene have been strongly associated with the development of FECD.TCF4encodes the E2-2 tran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee38df46af677a512482db4ace8476a
https://pubmed.ncbi.nlm.nih.gov/26451375
https://pubmed.ncbi.nlm.nih.gov/26451375
Autor:
Wojciech Młynarski, Jacek P. Szaflik, Maciej Borowiec, Kamil Szulborski, Aneta Ścieżyńska, Ewelina Ruszkowska, Monika Ołdak, Rafał Płoski, Piotr Stawiński, Joanna Kosińska, Małgorzata Mueller-Malesińska, Agnieszka Pollak
Publikováno v:
Human mutation. 35(10)
RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localizat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a70ff4b0dea3c56591e42c1ac84443
https://pubmed.ncbi.nlm.nih.gov/25044830
https://pubmed.ncbi.nlm.nih.gov/25044830
Autor:
Wojciech Drygas, Monika Ołdak, Agnieszka Sobczyk-Kopcioł, Rafał Płoski, Aleksandra Piwońska, Cezary Kowalewski, Agnieszka Pollak, Ewelina Ruszkowska
Publikováno v:
European Journal of Pediatrics
Martin-Probst syndrome (MPS) is an X-linked multisystem neurodevelopmental disorder, reported to be caused by the p.D59G mutation in RAB40AL. Whereas evidence against the pathogenic role of p.D59G has been published, the presence of RAB40AL p.D59G co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04c9aad3e3eed6205d12f4f5454b7e4