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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Olimpia Rzońca-Niewczas S. Dawidziuk M, et al. J Mother Child. 2021 Apr 30;24(3):32-36. doi: 10.34763/jmotherandchild.20202403.2021.d-20-00003. J Mother Child. 2021. PMID: 33930262 Free PMC article.
The COL7A1 mutation database.
Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Skroński M, Swięćkowski G, Kutkowska-Kaźmierczak A, Woźniak K, Bal J. Wertheim-Tysarowska K, et al. Hum Mutat. 2012 Feb;33(2):327-31. doi: 10.1002/humu.21651. Epub 2011 Dec 20. Hum Mutat. 2012. PMID: 22058051
Novel and recurrent COL7A1 mutation in a Polish population.
Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Kutkowska-Kaźmierczak A, Woźniak K, Niepokój K, Klausegger A, Sypniewska-Jutkiewicz J, Stępień A, Bal J. Wertheim-Tysarowska K, et al. Eur J Dermatol. 2012 Jan-Feb;22(1):23-8. doi: 10.1684/ejd.2011.1583. Eur J Dermatol. 2012. PMID: 22266148
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3. J Appl Genet. 2014. PMID: 24297458 Free PMC article.
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C. Wertheim-Tysarowska K, et al. J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2. J Appl Genet. 2016. PMID: 26432462 Free PMC article.
51 results