Krajewska-Walasek M - Search Results

1

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Blachowska E, Petriczko E, Horodnicka-Józwa A, Skórka A, Pelc M, Krajewska-Walasek M, Walczak M. Blachowska E, et al. Ital J Pediatr. 2016 Jan 26;42:10. doi: 10.1186/s13052-015-0209-4. Ital J Pediatr. 2016. PMID: 26812928 Free PMC article.

2

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. 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.

3

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Pelc M, Ciara E, Jezela-Stanek A, Kugaudo M, Cieślikowska A, Jurkiewicz D, Janeczko M, Chrzanowska K, Krajewska-Walasek M, Skórka A. Pelc M, et al. Clin Dysmorphol. 2017 Apr;26(2):83-90. doi: 10.1097/MCD.0000000000000165. Clin Dysmorphol. 2017. PMID: 28027064

4

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Jurkiewicz D, Skórka A, Ciara E, Kugaudo M, Pelc M, Chrzanowska K, Krajewska-Walasek M. Jurkiewicz D, et al. Clin Dysmorphol. 2020 Jan;29(1):28-34. doi: 10.1097/MCD.0000000000000307. Clin Dysmorphol. 2020. PMID: 31804259

5

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype.

Jezela-Stanek A, Kucharczyk M, Pelc M, Chrzanowska KH, Krajewska-Walasek M. Jezela-Stanek A, et al. Am J Med Genet A. 2012 Apr;158A(4):922-6. doi: 10.1002/ajmg.a.34440. Epub 2012 Feb 17. Am J Med Genet A. 2012. PMID: 22344789 No abstract available.

6

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Jezela-Stanek A, Kucharczyk M, Gutkowska A, Pelc M, Ciara E, Chrzanowska KH, Krajewska-Walasek M. Jezela-Stanek A, et al. Clin Dysmorphol. 2012 Apr;21(2):97-100. doi: 10.1097/MCD.0b013e32834e92b8. Clin Dysmorphol. 2012. PMID: 22391620 No abstract available.

7

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

Jezela-Stanek A, Kucharczyk M, Pelc M, Gutkowska A, Krajewska-Walasek M. Jezela-Stanek A, et al. Am J Med Genet A. 2013 Jan;161A(1):172-8. doi: 10.1002/ajmg.a.35654. Epub 2012 Nov 19. Am J Med Genet A. 2013. PMID: 23165892 Review.

8

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Jurkiewicz D, Kugaudo M, Skórka A, Śmigiel R, Smyk M, Ciara E, Chrzanowska K, Krajewska-Walasek M. Jurkiewicz D, et al. Am J Med Genet A. 2017 Jan;173(1):72-78. doi: 10.1002/ajmg.a.37964. Epub 2016 Sep 9. Am J Med Genet A. 2017. PMID: 27612309

9

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. 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

10

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. 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.

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