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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. 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.
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. 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. 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
151 results