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Page 1
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: pelc 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: pelc 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
Phenotype expansion and development in Kosaki overgrowth syndrome.
Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Gawliński P, et al. Among authors: pelc m. Clin Genet. 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192. Clin Genet. 2018. PMID: 29226947
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: pelc 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.
71 results