Search Results - "Knegt, A.C"

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions by Bliek, J, Snijder, S, Maas, S.M, Polstra, A, van der Lip, K, Alders, M, Knegt, A.C, Mannens, M.M.A.M

“…Abstract We report on two families in which the parental origin of duplications of the BWS imprinted regions on chromosome 11p15 influences the phenotype. In…”
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

“…Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features…”
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Selective karyotyping in recurrent miscarriage: are recommended guidelines adopted in daily clinical practice? by van den Boogaard, E., Hermens, R.P.M.G., Verhoeve, H.R., Kremer, J.A.M., van der Veen, F., Knegt, A.C., Goddijn, M.

“…BACKGROUND Couples with recurrent miscarriage (RM) have an increased risk of one of the partners carrying a structural chromosome abnormality. On the basis of…”
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Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage by Goddijn, M., Joosten, J.H.K., Knegt, A.C., van derVeen, F., Franssen, M.T.M., Bonsel, G.J., Leschot, N.J.

“…BACKGROUND: The annual number of parental karyotypes in cases of repeated miscarriage is increasing gradually in The Netherlands. The efficiency of offering…”
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Embryonic stem cell-like cells derived from adult human testis by Mizrak, S.C., Chikhovskaya, J.V., Sadri-Ardekani, H., van Daalen, S., Korver, C.M., Hovingh, S.E., Roepers-Gajadien, H.L., Raya, A., Fluiter, K., de Reijke, Th.M., de la Rosette, J.J.M.C.H., Knegt, A.C., Belmonte, J.C., van der Veen, F., de Rooij, D.G., Repping, S., van Pelt, A.M.M.

“…BACKGROUND Given the significant drawbacks of using human embryonic stem (hES) cells for regenerative medicine, the search for alternative sources of…”
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Ultrasound screening for fetal trisomies at 10–14 weeks gestation by Pajkrt, E., Bilardo, C.M., van Lith, J.M.M., Mol, B.W.J., Hansson, K., van Prooijen Knegt, A.C., Bleker, O.P.

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In situ hybridization of DNA sequences in human metaphase chromosomes visualized by an indirect fluorescent immunocytochemical procedure by Van Prooijen-Knegt, A C, Van Hoek, J F, Bauman, J G, Van Duijn, P, Wool, I G, Van der Ploeg, M

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Localization of specific DNA sequences in cell nuclei and human metaphase chromosomes by fluorescence microscopy by Van Prooijen-Knegt, A C, Van der Ploeg, M

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