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scopus: 8077739700

Noomen, P.

(Petra Noomen)


chromosome mosaicism probe trisomy marker result genet cytogenetic trisomy 17 mosaicism patient analysis array mosaic tissue marker chromosome signal supernumerary marker chromosomes fetus study marker chromosomes chromosomal technique j med genet origin identification table trisomy 17 van opstal level aberration probe signals uncultured opstal genome 11.2 netherland diagnosis umbilical cord blood syndrome diaphragmatic hernia region value supernumerary umbilical diagn prenat phenotype centromere sequence chromosome 5 blood abnormality mlpa results uncultured af cells ultrasound genome snp array karyotype probe rp 11-91a 11-91a frequency af cells anomaly right fetus ii 4 copies diaphragmatic mosaic aberration diaphragm figure mutation fl uid cells telomere defect hernia allele telomere kits chromosomal origin postmortem presence phenotypic




4 Most Recent Publications

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
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
Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient (Article)
Veenma, D.C.M. Beurskens, L.W.J.E. Klein, J.E.M.M. de Opstal, A.R.M. van Douben, H. Eussen, B.H.J. Noomen, P. Govaerts, L.C. Grijseels, E.W.M. Leguin, M. Krijger, R.R. de Tibboel, D.
2010-12-01
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