Ścieżyńska A - Search Results

1

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Ołdak M, Ścieżyńska A, Młynarski W, Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosińska J, Mueller-Malesińska M, Stawiński P, Szaflik JP, Płoski R. Ołdak M, et al. Among authors: sciezynska a. Hum Mutat. 2014 Oct;35(10):1171-4. doi: 10.1002/humu.22620. Epub 2014 Aug 7. Hum Mutat. 2014. PMID: 25044830

2

Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene.

Ołdak M, Szaflik JP, Ścieżyńska A, Udziela M, Maksym RB, Rymgayłło-Jankowska B, Hofmann-Rummelt C, Menzel-Severing J, Płoski R, Żarnowski T, Kruse FE, Szaflik J. Ołdak M, et al. Among authors: sciezynska a. Cornea. 2014 Mar;33(3):294-9. doi: 10.1097/ICO.0000000000000062. Cornea. 2014. PMID: 24473223

3

[Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].

Ołdak M, Sciezyńska A, Szulborski K, Szaflik JP, Szaflik J. Ołdak M, et al. Among authors: sciezynska a. Klin Oczna. 2014;116(1):52-8. Klin Oczna. 2014. PMID: 25137924 Review. Polish.

4

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.

Ołdak M, Ruszkowska E, Udziela M, Oziębło D, Bińczyk E, Ścieżyńska A, Płoski R, Szaflik JP. Ołdak M, et al. Among authors: sciezynska a. Biomed Res Int. 2015;2015:640234. doi: 10.1155/2015/640234. Epub 2015 Sep 16. Biomed Res Int. 2015. PMID: 26451375 Free PMC article.

5

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Ścieżyńska A, Oziębło D, Ambroziak AM, Korwin M, Szulborski K, Krawczyński M, Stawiński P, Szaflik J, Szaflik JP, Płoski R, Ołdak M. Ścieżyńska A, et al. Exp Eye Res. 2016 Apr;145:93-99. doi: 10.1016/j.exer.2015.11.011. Epub 2015 Nov 22. Exp Eye Res. 2016. PMID: 26593885

6

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

Ścieżyńska A, Ruszkowska E, Szulborski K, Rydz K, Wierzbowska J, Kosińska J, Rękas M, Płoski R, Szaflik JP, Ołdak M. Ścieżyńska A, et al. PLoS One. 2017 Aug 25;12(8):e0183866. doi: 10.1371/journal.pone.0183866. eCollection 2017. PLoS One. 2017. PMID: 28841713 Free PMC article.

7

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies.

Sciezynska A, Ozieblo D, Oldak M. Sciezynska A, et al. Klin Oczna. 2016 Aug;118(1):59-65. Klin Oczna. 2016. PMID: 29715411 Review.

8

Experimenal studies On cell and gene therapies for retinal dystrophies with a particular focus On ABCA4 retinopathies.

Sciezynska A, Ozieblo D, Oldak M. Sciezynska A, et al. Klin Oczna. 2016 Aug;118(1):66-71. Klin Oczna. 2016. PMID: 29715412 Review. English, Polish.

9

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.

Sarosiak A, Udziela M, Ścieżyńska A, Oziębło D, Wawrzynowska A, Szaflik JP, Ołdak M. Sarosiak A, et al. Among authors: sciezynska a. Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2127-2134. doi: 10.1007/s00417-018-4075-9. Epub 2018 Aug 6. Graefes Arch Clin Exp Ophthalmol. 2018. PMID: 30084067 Free PMC article.

10

Isolation and culture of human primary keratinocytes-a methods review.

Ścieżyńska A, Nogowska A, Sikorska M, Konys J, Karpińska A, Komorowski M, Ołdak M, Malejczyk J. Ścieżyńska A, et al. Exp Dermatol. 2019 Feb;28(2):107-112. doi: 10.1111/exd.13860. Epub 2019 Jan 14. Exp Dermatol. 2019. PMID: 30548893 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

24 results

Search Page

Filters