Výsledky vyhledávání - "E. J. Meershoek"

A yeast artificial chromosome contig spanning the Charcot — Marie — Tooth disease type 1A duplication region

Autor: G.J.B. van Ommen, A C Chinault, S. Wang, Bart W. Nieuwenhuijsen, E. J. Meershoek, V.H. Fischbeck, K.L. Chen, V.H. Valmiki

Publikováno v: Human Molecular Genetics. 1:605-612

A contiguous set of 43 overlapping yeast artificial chromosome (YAC) clones has been developed for the Charcot-Marie-Tooth disease type 1A (CMT1A) duplication region of chromosome 17p11.2. The contig spans approximately 2.0 Mb and can be represented

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89987ec325a3833df1429540e59524a2
https://doi.org/10.1093/hmg/1.8.605

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Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region

Autor: N A, Datson, E, Semina, A A, van Staalduinen, H G, Dauwerse, E J, Meershoek, J J, Heus, R R, Frants, J T, den Dunnen, J C, Murray, G J, van Ommen

Publikováno v: American journal of human genetics. 59(6)

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 been localized to human chromosome 4q25 by linkage to epidermal growth factor (EGF). We have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::71abf7b1e64cba76fbe415563fd2df06
https://pubmed.ncbi.nlm.nih.gov/8940275

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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

Autor: David E. Housman, Frank Baas, Vincent P. Stanton, Linda J. Valentijn, N H van den Bosch, G. W. Hensels, Garth A. Nicholson, E. J. Meershoek, I. Zorn, G.J.B. van Ommen, Kenneth H. Fischbeck, Hans G. Dauwerse, D. A. Ross, Pieter A. Bolhuis, Jessica E. Hoogendijk

Publikováno v: Nature genetics, 1(3), 166-170. Nature Publishing Group

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 peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e41fb641f65dbdc098ab75701d03965
https://pubmed.ncbi.nlm.nih.gov/1303229

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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

Autor: G.J.B. van Ommen, Kenneth H. Fischbeck, E. J. Meershoek, K.L. Chen, M.S. Driesen, P. Mollevanger, Martin C. Wapenaar, J. G. Dauwerse

Publikováno v: Genomics. 11(4)

A yeast artificial chromosome (YAC) library has been constructed from a somatic cell hybrid containing a t(1p;19q) chromosome and chromosome 17. After amplification, part of this library was analyzed by high-density colony filter screening with a rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c073d8fe775edcdb4fa604feeb243fcc
https://pubmed.ncbi.nlm.nih.gov/1783377

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