Smyk M - Search Results

1

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

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

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Smyk M, et al. Hum Genet. 2007 Aug;122(1):63-70. doi: 10.1007/s00439-007-0373-8. Epub 2007 May 15. Hum Genet. 2007. PMID: 17503084

5

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

6

PTCH1 duplication in a family with microcephaly and mild developmental delay.

Derwińska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P. Derwińska K, et al. Among authors: smyk m. Eur J Hum Genet. 2009 Feb;17(2):267-71. doi: 10.1038/ejhg.2008.176. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830227 Free PMC article.

7

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Vissers LE, et al. Among authors: smyk m. Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3. Hum Mol Genet. 2009. PMID: 19578123

8

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Smyk M, Szafranski P, Startek M, Gambin A, Stankiewicz P. Smyk M, et al. Chromosome Res. 2013 Dec;21(8):781-8. doi: 10.1007/s10577-013-9386-4. Epub 2013 Nov 20. Chromosome Res. 2013. PMID: 24254229

9

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Bartnik M, Wiśniowiecka-Kowalnik B, Nowakowska B, Smyk M, Kędzior M, Sobecka K, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Castañeda J, Własienko P, Bezniakow N, Obersztyn E, Bocian E. Bartnik M, et al. Among authors: smyk m. Dev Period Med. 2014 Jul-Sep;18(3):307-17. Dev Period Med. 2014. PMID: 25182394

10

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.

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