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Page 1
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K, Osipowicz K, Woźniak K, Sawicka J, Mika A, Kutkowska-Kaźmierczak A, Niepokój K, Sobczyńska-Tomaszewska A, Wawrzycki B, Pietrzak A, Śmigiel R, Wojtaś B, Gielniewski B, Szabelska-Beresewicz A, Zyprych-Walczak J, Rygiel AM, Domaszewicz A, Braun-Walicka N, Grabarczyk A, Rzońca-Niewczas S, Lidia R, Dawidziuk M, Domański D, Gambin T, Jackiewicz M, Duk K, Dorożko B, Szczygielski O, Krześniak N, Noszczyk BH, Obersztyn E, Wierzba J, Barczyk A, Castaneda J, Eckersdorf-Mastalerz A, Jakubiuk-Tomaszuk A, Własienko P, Jaszczuk I, Jezela-Stanek A, Klapecki J, van Geel M, Kowalewski C, Bal J, Gostyński A. Wertheim-Tysarowska K, et al. Among authors: kutkowska kazmierczak a. Orphanet J Rare Dis. 2024 Nov 5;19(1):413. doi: 10.1186/s13023-024-03395-4. Orphanet J Rare Dis. 2024. PMID: 39501396 Free PMC article.
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
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.
Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
Sawicka J, Kutkowska-Kaźmierczak A, Woźniak K, Tysarowski A, Osipowicz K, Poznański J, Rygiel AM, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska K. Sawicka J, et al. J Appl Genet. 2020 May;61(2):187-193. doi: 10.1007/s13353-020-00538-8. Epub 2020 Jan 25. J Appl Genet. 2020. PMID: 31983024 Free PMC article.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R. Jakubiak A, et al. J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12. J Appl Genet. 2021. PMID: 33982229 Free PMC article.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B. Paprocka J, et al. Among authors: kutkowska kazmierczak a. Genes (Basel). 2023 Apr 25;14(5):972. doi: 10.3390/genes14050972. Genes (Basel). 2023. PMID: 37239332 Free PMC article.
Hypogonadism - when does genetic diagnosis help in therapy?
Jankowska KK, Kutkowska-Kazmierczak A, Rygiel AM. Jankowska KK, et al. Among authors: kutkowska kazmierczak a. Ginekol Pol. 2024;95(4):245-251. doi: 10.5603/gpl.97327. Epub 2023 Oct 20. Ginekol Pol. 2024. PMID: 37861224 Free 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
51 results