Stembalska A - Search Results

1

[Rett syndrome. Classical form and preserved speech variant as a different phenotype effect of deletion with the same starting point in MeCP2 gene - report of 2 cases].

Stembalska A, Gil J, Pesz KA. Stembalska A, et al. Med Wieku Rozwoj. 2011 Oct-Dec;15(4):445-50. Med Wieku Rozwoj. 2011. PMID: 22516699 Polish.

2

[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: stembalska a. Med Wieku Rozwoj. 2011 Apr-Jun;15(2):132-9. Med Wieku Rozwoj. 2011. PMID: 22002044 Polish.

3

The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual's susceptibility to sporadic colorectal cancer.

Gil J, Ramsey D, Stembalska A, Karpinski P, Pesz KA, Laczmanska I, Leszczynski P, Grzebieniak Z, Sasiadek MM. Gil J, et al. Among authors: stembalska a. Mol Biol Rep. 2012 Jan;39(1):527-34. doi: 10.1007/s11033-011-0767-5. Epub 2011 May 11. Mol Biol Rep. 2012. PMID: 21559836

4

Fragile X syndrome in females - a familial case report and review of the literature.

Stembalska A, Łaczmańska I, Gil J, Pesz KA. Stembalska A, et al. Dev Period Med. 2016 Apr-Jun;20(2):99-104. Dev Period Med. 2016. PMID: 27442693 Review.

5

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

Laczmanska I, Stembalska A, Gil J, Czemarmazowicz H, Sasiadek M. Laczmanska I, et al. Among authors: stembalska a. Eur J Med Genet. 2006 Jan-Feb;49(1):87-92. doi: 10.1016/j.ejmg.2005.04.023. Epub 2005 Jul 6. Eur J Med Genet. 2006. PMID: 16473315

6

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations.

Laczmanska I, Gil J, Karpinski P, Stembalska A, Trusewicz A, Pesz K, Ramsey D, Schlade-Bartusiak K, Blin N, Sasiadek MM. Laczmanska I, et al. Among authors: stembalska a. Environ Mol Mutagen. 2007 Oct;48(8):666-71. doi: 10.1002/em.20333. Environ Mol Mutagen. 2007. PMID: 17685459

7

[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: stembalska a. Ginekol Pol. 2007 Dec;78(12):952-5. Ginekol Pol. 2007. PMID: 18411918 Polish.

8

Cancer stem cells: the theory and perspectives in cancer therapy.

Gil J, Stembalska A, Pesz KA, Sasiadek MM. Gil J, et al. Among authors: stembalska a. J Appl Genet. 2008;49(2):193-9. doi: 10.1007/BF03195612. J Appl Genet. 2008. PMID: 18436993 Review.

9

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype.

Karpinski P, Myszka A, Ramsey D, Misiak B, Gil J, Laczmanska I, Grzebieniak Z, Sebzda T, Smigiel R, Stembalska A, Sasiadek MM. Karpinski P, et al. Among authors: stembalska a. Cancer Epidemiol. 2010 Jun;34(3):338-44. doi: 10.1016/j.canep.2010.03.002. Epub 2010 Apr 8. Cancer Epidemiol. 2010. PMID: 20381446

10

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.

Sutkowska E, Gil J, Stembalska A, Hill-Bator A, Szuba A. Sutkowska E, et al. Among authors: stembalska a. Gene. 2012 Apr 25;498(1):96-9. doi: 10.1016/j.gene.2012.01.098. Epub 2012 Feb 14. Gene. 2012. PMID: 22349027

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