Makowska I - Search Results

1

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R. Bernaciak J, et al. Among authors: makowska i. Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490. Am J Med Genet A. 2008. PMID: 18792974

2

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome.

Myszka A, Karpinski P, Makowska I, Lassota M, Przelozna B, Slezak R, Sasiadek MM. Myszka A, et al. Among authors: makowska i. J Appl Genet. 2010;51(3):331-5. doi: 10.1007/BF03208863. J Appl Genet. 2010. PMID: 20720308

3

Somatic mosaicism in esophageal atresia.

Bednarczyk D, Makowska I, Sasiadek MM, Smigiel R. Bednarczyk D, et al. Among authors: makowska i. Am J Gastroenterol. 2014 Dec;109(12):1954-6. doi: 10.1038/ajg.2014.346. Am J Gastroenterol. 2014. PMID: 25470589 No abstract available.

4

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: makowska i. 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

5

Basal cell carcinoma of the skin: whole genome screening by comparative genome hybridization revisited.

Pesz KA, Bieniek A, Makowska I, Sąsiadek MM. Pesz KA, et al. Among authors: makowska i. J Cutan Pathol. 2013 Jan;40(1):25-9. doi: 10.1111/cup.12033. Epub 2012 Oct 17. J Cutan Pathol. 2013. PMID: 23072482

6

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

7

[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].

Łaczmańska I, Gil J, Stembalska A, Makowska I, Kozłowska J, Skiba P, Czemarmazowicz H, Pesz K, Slęzak R, Smigiel R, Jakubiak A, Doraczyńska-Kowalik A, Sąsiadek MM. Łaczmańska I, et al. Among authors: makowska i. Ginekol Pol. 2015 Sep;86(9):694-9. doi: 10.17772/gp/59024. Ginekol Pol. 2015. PMID: 26665572 Polish.

8

Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skin.

Pesz KA, Bieniek A, Gil J, Laczmanska I, Karpinski P, Makowska I, Trusewicz A, Sasiadek MM. Pesz KA, et al. Among authors: makowska i. Int J Dermatol. 2014 Dec;53(12):1474-7. doi: 10.1111/ijd.12156. Epub 2014 Sep 10. Int J Dermatol. 2014. PMID: 25209577

9

The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer.

Laczmanska I, Karpinski P, Gil J, Laczmanski L, Makowska I, Bebenek M, Ramsey D, Sasiadek MM. Laczmanska I, et al. Among authors: makowska i. Colorectal Dis. 2017 Jul;19(7):O272-O278. doi: 10.1111/codi.13727. Colorectal Dis. 2017. PMID: 28504867

10

Myelodysplastic syndromes according to FAB and WHO classification. Single center experience.

Haus O, Kotlarek-Haus S, Potoczek S, Czarnecka M, Duszenko E, Makowska I, Mirowska N, Kuliczkowski K. Haus O, et al. Among authors: makowska i. Neoplasma. 2006;53(2):136-43. Neoplasma. 2006. PMID: 16575469

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