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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Among authors: sladowski d. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R. Kutkowska-Kaźmierczak A, et al. Among authors: sladowski d. J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496980
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
Rydzanicz M, Olszewski P, Kedra D, Davies H, Filipowicz N, Bruhn-Olszewska B, Cavalli M, Szczałuba K, Młynek M, Machnicki MM, Stawiński P, Kostrzewa G, Krajewski P, Śladowski D, Chrzanowska K, Dumanski JP, Płoski R. Rydzanicz M, et al. Among authors: sladowski d. Mol Genet Genomic Med. 2021 Jan;9(1):e1526. doi: 10.1002/mgg3.1526. Epub 2020 Dec 14. Mol Genet Genomic Med. 2021. PMID: 33319479 Free PMC article.
The possible role of factor H in colon cancer resistance to complement attack.
Wilczek E, Rzepko R, Nowis D, Legat M, Golab J, Glab M, Gorlewicz A, Konopacki F, Mazurkiewicz M, Sladowski D, Gornicka B, Wasiutynski A, Wilczynski GM. Wilczek E, et al. Among authors: sladowski d. Int J Cancer. 2008 May 1;122(9):2030-7. doi: 10.1002/ijc.23238. Int J Cancer. 2008. PMID: 18183578 Free article.
Transplantation of a New Biological Product in Rare Diseases, Such as Epidermolysis Bullosa: Response and Clinical Outcome.
Pliszczyński J, Nita M, Kowalewski C, Woźniak K, Eljaszewicz A, Moniuszko M, Kamiński A, Śladowski D, Zimek Z, Majewski S, Kosieradzki M, Fiedor P. Pliszczyński J, et al. Among authors: sladowski d. Transplant Proc. 2020 Sep;52(7):2239-2243. doi: 10.1016/j.transproceed.2020.02.119. Epub 2020 Apr 22. Transplant Proc. 2020. PMID: 32334796
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