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Page 1
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Freud LR, et al. Among authors: kutkowska kazmierczak a. Am J Obstet Gynecol. 2024 Mar;230(3):368.e1-368.e12. doi: 10.1016/j.ajog.2023.09.005. Epub 2023 Sep 16. Am J Obstet Gynecol. 2024. PMID: 37717890
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.
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.
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.
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3. J Appl Genet. 2014. PMID: 24297458 Free PMC article.
50 results