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scopus: 17134060500

Boter, M.

(Marjan Boter)


patient sample chromosome result probe germ cells array gonadal signal analysis gonad diagnosis probe signals mosaicism table tissue study deletion control oct 3/4-positive cells abnormality genet cytogenetic testicular expression staining marker karyotyping pattern parent genetic journal karyotype syndrome trisomy mosaic differentiation value mlpa results oct 3/4 detection supernumerary marker chromosomes opstal region 3/4 figure y-positive technique 3/4-positive y-containing cell line ultrasound development basal lamina uncultured af cells genomic maturation tubules centromere sequence maturation delay culture chromosomal aneuploidy delay cell cultures netherland european journal 18- number diagn phenotype 11.2 van opstal y-positive cells uncultured prenat germ cell tumors european aneuploidie aberration




6 Most Recent Publications

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
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
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
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: A prospective study of 4000 amniotic fluid samples (Article)
Opstal, D. van Boter, M. Jong, D. de Berg, C.D.F. van den Brüggenwirth, H.T. Wildschut, H.I.J. Klein, J.E.M.M. de Galjaard, R-J.H.
2009-01-01
Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads (Article)
Cools, M.B.C.M. Boter, M. Gurp, R.J.H.L.M. van Stoop, J.A. Poddighe, P. Lau, Y.-F.C. Drop, S.L.S. Wolffenbuttel, K.P. Looijenga, L.H.J.
2007-08-01
Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes. (Article)
Cools, M.B.C.M. Aerde, K. van Kersemaekers, A.M. Boter, M. Drop, S.L.S. Wolffenbuttel, K.P. Steyerberg, E.W. Oosterhuis, J.W. Looijenga, L.H.J.
2005-09-01