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Page 1
Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption.
Rossel SVJ, Reich A, Baniel A, Wertheim-Tysarowska K, Frommherz LH, Nolberczak D, Lesiak A, Kwiek B, Osipowicz K, Bekkenk MW, Spruijt L, Seyger MMB, Kołt-Kamińska M, Giehl K, Nartbutt J, Vreeburg M, Steijlen PM, Sprecher E, van Geel M, Gostyński AH. Rossel SVJ, et al. Among authors: wertheim tysarowska k. J Eur Acad Dermatol Venereol. 2024 Nov 20. doi: 10.1111/jdv.20420. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 39564931 No abstract available.
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. 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.
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
Wertheim-Tysarowska K, Osipowicz K, Gielniewski B, Wojtaś B, Szabelska-Beręsewicz A, Zyprych-Walczak J, Mika A, Tysarowski A, Duk K, Rygiel AM, Niepokój K, Woźniak K, Kowalewski C, Wierzba J, Jezela-Stanek A. Wertheim-Tysarowska K, et al. Int J Mol Sci. 2023 May 29;24(11):9459. doi: 10.3390/ijms24119459. Int J Mol Sci. 2023. PMID: 37298411 Free PMC article.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M. Bisello G, et al. Among authors: wertheim tysarowska k. Cell Mol Life Sci. 2022 May 20;79(6):305. doi: 10.1007/s00018-022-04343-w. Cell Mol Life Sci. 2022. PMID: 35593933 Free PMC article.
Diagnosis and treatment of exocrine pancreatic insufficiency in chronic pancreatitis: An international expert survey and case vignette study.
de Rijk FEM, van Veldhuisen CL, Besselink MG, van Hooft JE, van Santvoort HC, van Geenen EJM, Hegyi P, Löhr JM, Dominguez-Munoz JE, de Jonge PJF, Bruno MJ, Verdonk RC; Dutch Pancreatitis Study Group. de Rijk FEM, et al. Pancreatology. 2022 May;22(4):457-465. doi: 10.1016/j.pan.2022.03.013. Epub 2022 Mar 16. Pancreatology. 2022. PMID: 35346599 Free article.
Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.
Osipowicz K, Wertheim-Tysarowska K, Kwiek B, Jankowska E, Gos M, Charzewska A, Woźniak K, Kowalewski C. Osipowicz K, et al. Among authors: wertheim tysarowska k. Postepy Dermatol Alergol. 2021 Dec;38(6):1032-1038. doi: 10.5114/ada.2020.98564. Epub 2020 Sep 2. Postepy Dermatol Alergol. 2021. PMID: 35126011 Free PMC article.
52 results