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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.
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.
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A, Geremek M, Roszkowski T, Bijok J, Massalska D, Ciebiera M, Correia H, Pereira-Caetano I, Barreta A, Obersztyn E, Kutkowska-Kaźmierczak A, Własienko P, Krajewska-Walasek M, Węgrzyn P, Dudarewicz L, Krzeszowski W, Rybak-Krzyszkowska M, Nowakowska B. Kucińska-Chahwan A, et al. Among authors: kutkowska kazmierczak a. Genes (Basel). 2022 Apr 21;13(5):724. doi: 10.3390/genes13050724. Genes (Basel). 2022. PMID: 35627109 Free PMC article.
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Kowalczyk K, Bartnik-Głaska M, Smyk M, Plaskota I, Bernaciak J, Kędzior M, Wiśniowiecka-Kowalnik B, Jakubów-Durska K, Braun-Walicka N, Barczyk A, Geremek M, Castañeda J, Kutkowska-Kaźmierczak A, Własienko P, Dębska M, Kucińska-Chahwan A, Roszkowski T, Kozłowski S, Mikulska B, Issat T, Obersztyn E, Nowakowska BA. Kowalczyk K, et al. Among authors: kutkowska kazmierczak a. Genes (Basel). 2021 Dec 19;12(12):2021. doi: 10.3390/genes12122021. Genes (Basel). 2021. PMID: 34946970 Free PMC article.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kaźmierczak A, Kowalczyk K, Plaskota I, Wiśniowiecka-Kowalnik B, Bartnik-Głaska M, Niemiec M, Grad D, Piotrowicz M, Gieruszczak-Białek D, Pietrzyk A, Crowley TB, Giunta V, McGinn DE, Zackai EH, Tran O, Emanuel BS, McDonald-McGinn DM, Nowakowska BA. Smyk M, et al. Among authors: kutkowska kazmierczak a. Genes (Basel). 2023 Mar 9;14(3):680. doi: 10.3390/genes14030680. Genes (Basel). 2023. PMID: 36980952 Free PMC article.
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