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Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W. Hogendorf A, et al. Among authors: budzynska e. Front Immunol. 2021 Nov 17;12:742834. doi: 10.3389/fimmu.2021.742834. eCollection 2021. Front Immunol. 2021. PMID: 34867966 Free PMC article.
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
Pastorczak A, Hogendorf A, Urbanska Z, Budzynska E, Jesionek-Kupnicka D, Gach A, Hawula W, Smigiel R, Skiba P, Sasiadek M, Lejman M, Constatinou M, Lipska-Ziętkiewicz BS, Mlynarski W. Pastorczak A, et al. Among authors: budzynska e. Genes Chromosomes Cancer. 2021 Feb;60(2):79-87. doi: 10.1002/gcc.22914. Epub 2020 Nov 18. Genes Chromosomes Cancer. 2021. PMID: 33135230
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M, Gambin T, Bukowska-Olech E, Antczak-Marach D, Badura-Stronka M, Buda P, Budzynska E, Castaneda J, Chilarska T, Czyzyk E, Eckersdorf-Mastalerz A, Fijak-Moskal J, Gieruszczak-Bialek D, Glodek-Brzozowska E, Goszczanska-Ciuchta A, Grzeszykowska-Podymniak M, Gurda B, Jakubiuk-Tomaszuk A, Jamroz E, Janeczko M, Jedlińska-Pijanowska D, Jurek M, Karolewska D, Kazmierczak A, Kleist T, Kochanowska I, Krajewska-Walasek M, Kufel K, Kutkowska-Kaźmierczak A, Lipiec A, Maksym-Gasiorek D, Materna-Kiryluk A, Mazurkiewicz H, Milewski M, Pavina-Guglas T, Pietrzyk A, Posmyk R, Pyrkosz A, Rudzka-Dybala M, Slezak R, Wisniewska M, Zalewska-Miszkurka Z, Szczepanik E, Obersztyn E, Bekiesinska-Figatowska M, Gawlinski P, Wiszniewski W. Dawidziuk M, et al. Among authors: budzynska e. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 Free PMC article.
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.
Skoczylas S, Jakiel P, Płoszaj T, Gadzalska K, Borowiec M, Pastorczak A, Moczulska H, Malarska M, Eckersdorf-Mastalerz A, Budzyńska E, Zmysłowska A. Skoczylas S, et al. Among authors: budzynska e. Neurogenetics. 2023 Oct;24(4):221-229. doi: 10.1007/s10048-023-00724-w. Epub 2023 Jul 5. Neurogenetics. 2023. PMID: 37405542 Free PMC article.
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