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chromosome probe marker marker chromosome result supernumerary marker chromosomes signal marker chromosomes cytogenetic mosaicism technique genet probe signals 11.2 van opstal identification trisomy opstal origin centromere fetus study sequence table mlpa results supernumerary uncultured af cells diagnosis probe rp 11-91a analysis value 11-91a diagn fetus ii prenat 4 copies figure array telomere telomere kits chromosomal phenotype chromosomal origin ssmc identification chromosome 3 p 036b uncultured patient level j med genet 3 p 11.1 liehr rp 11-91a breakpoint centromere kits probe signal af cells hek gene p 070 fetus i probe amplification fish techniques microarray sample tetrasomy amplification metaphase origin studies mosaic supernumerary marker chromosome liehr t dna isolation 1.6 genotype –phenotype correlation ledbetter dh growth culture cell cultures villi 3 copies
7 Most Recent Publications
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Another rare prenatal case of post-zygotic mosaic trisomy 17
(Article)
Vries, F.A. de Govaerts, L.C. Knijnenburg, J. Knapen, M.F.C.M. Oudesluijs, G.G. Lont, D. Noomen, P. Graaff, K. Srebniak, M. Opstal, D. van |
2013-03-22
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1
(Article)
Verhagen, J.M.A. Diderich, K. Srebniak, M. Opstal, D. van Hulsman, L.O. Zutven, L.J.C.M. van Wessels, M.W. Oudesluijs, G.G. Mancini, G.M.S. Eggink, A.J. Verkleij-Hagoort , A.C. Groenenberg, I.A.L. Willems, P.J. Du Plessis, F. Man, S.A. de |
2012-10-01
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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
(Article)
Srebniak, M. Boter, M. Verboven-Peerden, C.M.A. Looye-Bruinsma, G.A.G. Oudesluijs, G.G. Galjaard, R.-J.H. Opstal, D. van |
2011-12-05
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Application of SNP array for rapid prenatal diagnosis: Implementation, genetic counselling and diagnostic flow
(Article)
Srebniak, M. Boter, M. Oudesluijs, G.G. Joosten, M. Govaerts, L.C. Opstal, D. van Galjaard, R-J.H. |
2011-12-01
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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
(Article)
Bosch, J. van den Oemardien, L.F. Srebniak, M. Piraud, M. Huijmans, J. Verheijen, F.W. Ruijter, G.J.G. |
2011-10-01
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Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
(Article)
Opstal, D. van Boter, M. Noomen, P. Srebniak, M. Hamers, G. Galjaard, R-J.H. |
2011-01-18
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An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3) - Difficulties in interpretation
(Article)
Srebniak, M. Noomen, P. Dos Santos, P. Halley, D. Graaf, R. van de Govaerts, L.C. Wouters, C.H. Galjaard, R-J.H. Opstal, D. van |
2008-10-01
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