Srebniak MI - Search Results

1

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, Stuurman KE, Hoefsloot LH, Van Opstal D, Brüggenwirth HT, Srebniak MI. Diderich KEM, et al. Among authors: srebniak mi. Eur J Med Genet. 2023 Oct;66(10):104844. doi: 10.1016/j.ejmg.2023.104844. Epub 2023 Sep 13. Eur J Med Genet. 2023. PMID: 37709011

2

Subfertile couple with inv(2),inv(9) and 16qh+.

Srebniak M, Wawrzkiewicz A, Wiczkowski A, Kaźmierczak W, Olejek A. Srebniak M, et al. J Appl Genet. 2004;45(4):477-9. J Appl Genet. 2004. PMID: 15523161

3

[Chromosome instability syndromes].

Tomaszewska A, Srebniak M, Gnyś A. Tomaszewska A, et al. Pol Merkur Lekarski. 2006 May;20(119):577-81. Pol Merkur Lekarski. 2006. PMID: 16875167 Review. Polish.

4

Cytogenetic analysis of an asymmetric potato hybrid.

Srebniak M, Rasmussen O, Małuszyńska J. Srebniak M, et al. J Appl Genet. 2002;43(1):19-31. J Appl Genet. 2002. PMID: 12084967

5

The usefulness of calyculin a for cytogenetic prenatal diagnosis.

Srebniak MI, Trapp GG, Wawrzkiewicz AK, Kaźmierczak W, Wiczkowski AK. Srebniak MI, et al. J Histochem Cytochem. 2005 Mar;53(3):391-4. doi: 10.1369/jhc.4B6392.2005. J Histochem Cytochem. 2005. PMID: 15750027

6

Cellular toxicity of oxycholesterols.

Wielkoszyński T, Gawron K, Strzelczyk J, Bodzek P, Zalewska-Ziob M, Trapp G, Srebniak M, Wiczkowski A. Wielkoszyński T, et al. Bioessays. 2006 Apr;28(4):387-98. doi: 10.1002/bies.20383. Bioessays. 2006. PMID: 16547953 Review.

7

Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.

Kowalczyk M, Tomaszewska A, Podbioł-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kałużewski B, Zajączek S, Srebniak MI. Kowalczyk M, et al. Among authors: srebniak mi. Cytogenet Genome Res. 2013;139(1):9-16. doi: 10.1159/000342165. Epub 2012 Sep 5. Cytogenet Genome Res. 2013. PMID: 22965227

8

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation.

Srebniak M, Noomen P, dos Santos P, Halley D, van de Graaf R, Govaerts L, Wouters C, Galjaard RJ, Van Opstal D. Srebniak M, et al. Prenat Diagn. 2008 Oct;28(10):967-70. doi: 10.1002/pd.2077. Prenat Diagn. 2008. PMID: 18821719 No abstract available.

9

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.

Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ. Van Opstal D, et al. Mol Cytogenet. 2011 Jan 14;4:2. doi: 10.1186/1755-8166-4-2. Mol Cytogenet. 2011. PMID: 21235775 Free PMC article.

10

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ. Srebniak M, et al. Eur J Hum Genet. 2011 Dec;19(12):1230-7. doi: 10.1038/ejhg.2011.119. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694736 Free PMC article.

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