Srebniak M - Search Results

1

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. Among authors: srebniak m. Mol Cytogenet. 2011 Jan 14;4:2. doi: 10.1186/1755-8166-4-2. Mol Cytogenet. 2011. PMID: 21235775 Free PMC article.

2

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.

3

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.

4

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Srebniak MI, Boter M, Verboven-Peerden CM, Looye-Bruinsma GA, Oudesluijs G, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Mol Cytogenet. 2011 Dec 2;4(1):27. doi: 10.1186/1755-8166-4-27. Mol Cytogenet. 2011. PMID: 22136596 Free PMC article.

5

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Srebniak MI, Boter M, Oudesluijs GO, Cohen-Overbeek T, Govaerts LC, Diderich KE, Oegema R, Knapen MF, van de Laar IM, Joosten M, Van Opstal D, Galjaard RJ. Srebniak MI, et al. Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14. Mol Cytogenet. 2012. PMID: 22413963 Free PMC article.

6

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW. Verhagen JM, et al. Among authors: srebniak mi. Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14. Am J Med Genet A. 2012. PMID: 22893440

7

Another rare prenatal case of post-zygotic mosaic trisomy 17.

de Vries FA, Govaerts LC, Knijnenburg J, Knapen MF, Oudesluijs GG, Lont D, Noomen P, de Graaff K, Srebniak MI, Van Opstal D. de Vries FA, et al. Among authors: srebniak mi. Am J Med Genet A. 2013 May;161A(5):1196-9. doi: 10.1002/ajmg.a.35867. Epub 2013 Mar 20. Am J Med Genet A. 2013. PMID: 23512336 No abstract available.

8

0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice.

Srebniak MI, Mout L, Van Opstal D, Galjaard RJ. Srebniak MI, et al. Hum Mutat. 2013 Sep;34(9):1298-303. doi: 10.1002/humu.22355. Epub 2013 Jun 6. Hum Mutat. 2013. PMID: 23674485

9

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature.

de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. de Wit MC, et al. Among authors: srebniak mi. Ultrasound Obstet Gynecol. 2014 Feb;43(2):139-46. doi: 10.1002/uog.12575. Ultrasound Obstet Gynecol. 2014. PMID: 23897843 Free article. Review.

10

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

Tomaszewska A, Podbiol-Palenta A, Boter M, Geisler G, Wawrzkiewicz-Witkowska A, Galjaard RJ, Zajączek S, Srebniak MI. Tomaszewska A, et al. Among authors: srebniak mi. Am J Med Genet A. 2013 Sep;161A(9):2347-51. doi: 10.1002/ajmg.a.36076. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918240

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