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Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E, Sowińska-Seidler A, Larysz D, Gawliński P, Koczyk G, Popiel D, Gurba-Bryśkiewicz L, Materna-Kiryluk A, Adamek Z, Szczepankiewicz A, Dominiak P, Glista F, Matuszewska K, Jamsheer A. Bukowska-Olech E, et al. Among authors: materna kiryluk a. Front Mol Biosci. 2022 Apr 28;9:865494. doi: 10.3389/fmolb.2022.865494. eCollection 2022. Front Mol Biosci. 2022. PMID: 35591945 Free PMC article.
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. J Clin Med. 2020 Apr 25;9(5):1245. doi: 10.3390/jcm9051245. J Clin Med. 2020. PMID: 32344861 Free PMC article.
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E, Materna-Kiryluk A, Walczak-Sztulpa J, Popiel D, Badura-Stronka M, Koczyk G, Dawidziuk A, Jamsheer A. Bukowska-Olech E, et al. Front Genet. 2020 Nov 11;11:580477. doi: 10.3389/fgene.2020.580477. eCollection 2020. Front Genet. 2020. PMID: 33262786 Free PMC article.
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: materna kiryluk a. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 Free PMC article.
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Walczak-Sztulpa J, Wawrocka A, Kuszel Ł, Pietras P, Leśniczak-Staszak M, Andrusiewicz M, Krawczyński MR, Latos-Bieleńska A, Pawlak M, Grenda R, Materna-Kiryluk A, Oud MM, Szaflarski W. Walczak-Sztulpa J, et al. Among authors: materna kiryluk a. Front Mol Biosci. 2023 Dec 12;10:1285790. doi: 10.3389/fmolb.2023.1285790. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161384 Free PMC article.
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