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Page 1
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. Ji J, et al. Among authors: wisniowiecka kowalnik b. Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. Eur J Hum Genet. 2015. PMID: 25944381 Free PMC article.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22825934
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Wiśniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczałuba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Wiśniowiecka-Kowalnik B, et al. Eur J Hum Genet. 2013 Jun;21(6):620-5. doi: 10.1038/ejhg.2012.219. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032108 Free PMC article.
Assessment of the role of copy-number variants in 150 patients with congenital heart defects.
Derwińska K, Bartnik M, Wiśniowiecka-Kowalnik B, Jagła M, Rudziński A, Pietrzyk JJ, Kawalec W, Ziółkowska L, Kutkowska-Kaźmierczak A, Gambin T, Sykulski M, Shaw CA, Gambin A, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Derwińska K, et al. Med Wieku Rozwoj. 2012 Jul-Sep;16(3):175-82. Med Wieku Rozwoj. 2012. PMID: 23378395
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.
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Bartnik M, Wiśniowiecka-Kowalnik B, Nowakowska B, Smyk M, Kędzior M, Sobecka K, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Castañeda J, Własienko P, Bezniakow N, Obersztyn E, Bocian E. Bartnik M, et al. Among authors: wisniowiecka kowalnik b. Dev Period Med. 2014 Jul-Sep;18(3):307-17. Dev Period Med. 2014. PMID: 25182394
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: wisniowiecka kowalnik b. Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257. Genes (Basel). 2021. PMID: 34440431 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: wisniowiecka kowalnik b. Genes (Basel). 2023 Mar 9;14(3):680. doi: 10.3390/genes14030680. Genes (Basel). 2023. PMID: 36980952 Free PMC article.
22 results