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Page 1
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: kugaudo m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: kugaudo m. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.
Skórka A, Ciara E, Gieruszczak-Białek D, Pelc M, Kugaudo M, Chrzanowska K, Krajewska-Walasek M. Skórka A, et al. Among authors: kugaudo m. Am J Med Genet A. 2012 Jun;158A(6):1486-8. doi: 10.1002/ajmg.a.35320. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528320 No abstract available.
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D, Gliwicz D, Ciara E, Gerfen J, Pelc M, Piekutowska-Abramczuk D, Kugaudo M, Chrzanowska K, Spinner NB, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: kugaudo m. J Appl Genet. 2014 Aug;55(3):329-36. doi: 10.1007/s13353-014-0212-2. Epub 2014 Apr 20. J Appl Genet. 2014. PMID: 24748328 Free PMC article.
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M. Ciara E, et al. Among authors: kugaudo m. Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11. Eur J Med Genet. 2015. PMID: 25463315
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.
Kucharczyk M, Jezela-Stanek A, Gieruszczak-Bialek D, Kugaudo M, Cieslikowska A, Pelc M, Krajewska-Walasek M. Kucharczyk M, et al. Among authors: kugaudo m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2015 Jun;159(2):333-7. doi: 10.5507/bp.2015.003. Epub 2015 Feb 10. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2015. PMID: 25690523 Free article.
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