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Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M. Kutkowska-Kaźmierczak A, et al. Among authors: pietrzyk a. Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257. Genes (Basel). 2021. PMID: 34440431 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: pietrzyk a. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 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: pietrzyk a. Genes (Basel). 2023 Mar 9;14(3):680. doi: 10.3390/genes14030680. Genes (Basel). 2023. PMID: 36980952 Free PMC article.
The Limitations of Cytomegalovirus DNA Detection in Cerebrospinal Fluid of Newborn Infants With Congenital CMV Infection: A Tertiary Care Neonatal Center Experience.
Czech-Kowalska J, Jedlińska-Pijanowska D, Kasztelewicz B, Kłodzińska M, Pietrzyk A, Sarkaria E, Dunin-Wąsowicz D, Gradowska K, Niezgoda A, Gruszfeld D, Dobrzańska A. Czech-Kowalska J, et al. Among authors: pietrzyk a. Pediatr Infect Dis J. 2021 Sep 1;40(9):838-845. doi: 10.1097/INF.0000000000003205. Pediatr Infect Dis J. 2021. PMID: 34285168
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A, Pinkier I, Wysocka U, Sałacińska K, Salachna D, Szarras-Czapnik M, Pietrzyk A, Sakowicz A, Nykel A, Rutkowska L, Rybak-Krzyszkowska M, Socha M, Jamsheer A, Jakubowski L. Gach A, et al. Among authors: pietrzyk a. Arch Med Sci. 2020 Sep 18;18(2):353-364. doi: 10.5114/aoms.2020.98909. eCollection 2022. Arch Med Sci. 2020. PMID: 35316923 Free PMC article.
Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review.
Wojciechowska K, Kwaśny M, Pietrzyk A, Lejman M. Wojciechowska K, et al. Among authors: pietrzyk a. Ann Agric Environ Med. 2024 Mar 25;31(1):147-150. doi: 10.26444/aaem/175610. Epub 2023 Dec 7. Ann Agric Environ Med. 2024. PMID: 38549490 Free article. Review.
50 results