Ślęzak R - Search Results

1

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Podralska MJ, Stembalska A, Ślęzak R, Lewandowicz-Uszyńska A, Pietrucha B, Kołtan S, Wigowska-Sowińska J, Pilch J, Mosor M, Ziółkowska-Suchanek I, Dzikiewicz-Krawczyk A, Słomski R. Podralska MJ, et al. Among authors: slezak r. Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30. Mol Genet Genomic Med. 2014. PMID: 25614872 Free PMC article.

2

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

Stembalska A, Slezak R, Pesz K, Gil J, Sasiadek M. Stembalska A, et al. Among authors: slezak r. Folia Histochem Cytobiol. 2007;45 Suppl 1:S11-6. Folia Histochem Cytobiol. 2007. PMID: 18292841 Review.

3

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

Myszka A, Karpinski P, Slezak R, Czemarmazowicz H, Stembalska A, Gil J, Laczmanska I, Bednarczyk D, Szmida E, Sasiadek MM. Myszka A, et al. Among authors: slezak r. J Appl Genet. 2011 May;52(2):185-91. doi: 10.1007/s13353-010-0013-1. Epub 2010 Dec 1. J Appl Genet. 2011. PMID: 21120647

4

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.

Łaczmańska I, Stembalska A, Złocińska M, Kozłowska J, Skiba P, Pesz K, Ślęzak R, Śmigiel R, Jakubiak A, Misiak B, Sąsiadek MM. Łaczmańska I, et al. Among authors: slezak r. Adv Clin Exp Med. 2020 Jan;29(1):101-106. doi: 10.17219/acem/112609. Adv Clin Exp Med. 2020. PMID: 31990460 Free article.

5

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM. Smigiel R, et al. Among authors: slezak r. Eur J Pediatr. 2008 Sep;167(9):1063-5. doi: 10.1007/s00431-007-0608-7. Epub 2007 Nov 14. Eur J Pediatr. 2008. PMID: 18000682

6

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Steen JA, Theys D, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Stembalska A, Pesz K, Kitsera N, Siekierzynska A, Southey MC, Myszka A. Nguyen-Dumont T, et al. Among authors: slezak r. Genet Res (Camb). 2020 Aug 10;102:e6. doi: 10.1017/S0016672320000075. Genet Res (Camb). 2020. PMID: 32772980 Free PMC article.

7

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R. Slezak R, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1432. doi: 10.1002/mgg3.1432. Epub 2020 Jul 24. Mol Genet Genomic Med. 2020. PMID: 32705777 Free PMC article.

8

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].

Laczmańska I, Jakubiak A, Slęzak R, Pesz K, Stembalska A, Laczmański L, Sąsiadek MM, Smigiel R. Laczmańska I, et al. Among authors: slezak r. Med Wieku Rozwoj. 2011 Apr-Jun;15(2):132-9. Med Wieku Rozwoj. 2011. PMID: 22002044 Polish.

9

[Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis].

Laczmańska I, Stembalska A, Slezak R, Kozłowska J, Makowska I, Czemarmazowicz H, Pesz KA, Smigiel R, Jakiel A, Sasiadek MM. Laczmańska I, et al. Among authors: slezak r. Ginekol Pol. 2007 Dec;78(12):952-5. Ginekol Pol. 2007. PMID: 18411918 Polish.

10

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS. Koczkowska M, et al. Among authors: slezak r. J Appl Genet. 2017 Feb;58(1):93-98. doi: 10.1007/s13353-016-0366-1. Epub 2016 Sep 14. J Appl Genet. 2017. PMID: 27629806 Free PMC article.

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