Search Results - "Meershoek, E. J"

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A by Valentijn, L. J, Bolhuis, P. A, Zorn, I, Hoogendijk, J. E, van den Bosch, N, Hensels, G. W, Stanton, V. P, Housman, D. E, Fischbeck, K. H, Ross, D. A, Nicholson, G. A, Meershoek, E. J, Dauwerse, H. G, van Ommen, G. -J. B, Baas, F

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for…”
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Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation by Ioannou, D., Fonseka, K. G. L., Meershoek, E. J., Thornhill, A. R., Abogrein, A., Ellis, M., Griffin, D. K.

“…Fluorescence in situ hybridisation (FISH) was first applied on in vitro fertilisation (IVF) embryos for the preimplantation genetic diagnosis of sex, then…”
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Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers by Ioannou, D., Meershoek, E.J., Thornhill, A.R., Ellis, M., Griffin, D.K.

“…From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation – FISH) revolutionised…”
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Closing in on the Rieger syndrome gene on 4q25 : Mapping translocation breakpoints within a 50-kb region by DATSON, N. A, SEMINA, E, VAN STAALDUINEN, A. A. A, DAUWERSE, H. G, MEERSHOEK, E. J, HEUS, J. J, FRANTS, R. R, DEN DUNNEN, J. T, MURRAY, J. C, VAN OMMEN, G. J. B

“…Rieger syndrome (RGS) is an autosomal dominant disorder of morphogenesis affecting mainly the formation of the anterior eye chamber and of the teeth. RGS has…”
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Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library by Driesen, M S, Dauwerse, J G, Wapenaar, M C, Meershoek, E J, Mollevanger, P, Chen, K L, Fischbeck, K H, van Ommen, G J

“…A yeast artificial chromosome (YAC) library has been constructed from a somatic cell hybrid containing a t(1p;19q) chromosome and chromosome 17. After…”
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A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region by Nieuwenhuijsen, B W, Chen, K L, Chinault, A C, Wang, S, Valmiki, V H, Meershoek, E J, van Ommen, G J, Fischbeck, K H

“…A contiguous set of 43 overlapping yeast artificial chromosome (YAC) clones has been developed for the Charcot-Marie-Tooth disease type 1A (CMT1A) duplication…”
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An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS by Van de Vosse, E, Bergen, A A, Meershoek, E J, Oosterwijk, J C, Gregory, S, Bakker, B, Weissenbach, J, Coffey, A J, van Ommen, G J, Den Dunnen, J T

“…To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome…”
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Expression of the human Dp 71 (apo-dystrophin-1) gene from a 760-kb DMD-YAC transferred to mouse cells by Heikoop, J C, Hogervorst, F B, Meershoek, E J, Grootscholten, P M, den Dunnen, J T, van Ommen, G J

“…A 760-kb YAC was constructed by homologous recombination in yeast, containing the genes located in the distal portion of the DMD gene. The YAC was introduced…”
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