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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. Among authors: krawczynski m. 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
Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.
Piotrowska-Nowak A, Krawczyński MR, Kosior-Jarecka E, Ambroziak AM, Korwin M, Ołdak M, Tońska K, Bartnik E. Piotrowska-Nowak A, et al. Among authors: krawczynski mr. Metab Brain Dis. 2020 Dec;35(8):1317-1327. doi: 10.1007/s11011-020-00605-3. Epub 2020 Aug 1. Metab Brain Dis. 2020. PMID: 32740724 Free PMC article.
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28. J Appl Genet. 2015. PMID: 25820994 Free PMC article. Review.
216 results