Smyk M - Search Results

1

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.

Jamsheer A, Smyk M, Wierzba J, Kołowska J, Woźniak A, Skołozdrzy J, Fischer M, Latos-Bieleńska A. Jamsheer A, et al. Among authors: smyk m. J Appl Genet. 2008;49(4):397-405. doi: 10.1007/BF03195639. J Appl Genet. 2008. PMID: 19029687

2

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.

Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Leipoldt M, et al. Among authors: smyk m. Clin Genet. 2007 Jan;71(1):67-75. doi: 10.1111/j.1399-0004.2007.00736.x. Clin Genet. 2007. PMID: 17204049

3

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P. Smyk M, et al. Am J Med Genet A. 2007 Apr 15;143A(8):866-70. doi: 10.1002/ajmg.a.31631. Am J Med Genet A. 2007. PMID: 17352389

4

Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.

Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Li J, Chinault AC, Smyk M, Borg K, Mazurczak T, Cheung SW, Bocian E. Nowakowska B, et al. Among authors: smyk m. Am J Med Genet A. 2008 Sep 15;146A(18):2361-9. doi: 10.1002/ajmg.a.32475. Am J Med Genet A. 2008. PMID: 18698622

5

Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.

Smyk M, Poluha A, Jaszczuk I, Bartnik M, Bernaciak J, Nowakowska B. Smyk M, et al. Am J Med Genet A. 2016 May;170A(5):1325-9. doi: 10.1002/ajmg.a.37579. Epub 2016 Feb 2. Am J Med Genet A. 2016. PMID: 26834018

6

Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Geremek M, Dudarewicz L, Obersztyn E, Paczkowska M, Smyk M, Sobecka K, Nowakowska B. Geremek M, et al. Among authors: smyk m. Clin Genet. 2020 Apr;97(4):634-638. doi: 10.1111/cge.13677. Epub 2019 Dec 11. Clin Genet. 2020. PMID: 31730230

7

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.

Kowalczyk K, Smyk M, Bartnik-Głaska M, Plaskota I, Wiśniowiecka-Kowalnik B, Bernaciak J, Chojnacka M, Paczkowska M, Niemiec M, Dutkiewicz D, Kozar A, Magdziak R, Krawczyk W, Pietras G, Michalak E, Klepacka T, Obersztyn E, Bal J, Nowakowska BA. Kowalczyk K, et al. Among authors: smyk m. J Assist Reprod Genet. 2022 Feb;39(2):357-367. doi: 10.1007/s10815-022-02400-8. Epub 2022 Jan 26. J Assist Reprod Genet. 2022. PMID: 35079943 Free PMC article.

8

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E. Smyk M, et al. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):799-806. doi: 10.1002/ajmg.b.30683. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18165974

9

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, Bal J, Hoffman-Zacharska D. Charzewska A, et al. Among authors: smyk m. Clin Genet. 2015 Sep;88(3):297-9. doi: 10.1111/cge.12528. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25394356 No abstract available.

10

[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

Przybylska-Kruszewska A, Kutkowska-Kaźmierczak A, Krzywdzińska A, Smyk M, Nowakowska B, Gryglicka H, Obersztyn E, Hozyasz KK. Przybylska-Kruszewska A, et al. Among authors: smyk m. Pol Merkur Lekarski. 2016 Apr;40(238):255-9. Pol Merkur Lekarski. 2016. PMID: 27137828 Polish.

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