Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

Autor: I B Konings, George W. Padberg, A. J. van Essen, B.C.J. Hamel, Hannie Kremer, R Koch, Marcel R. Nelen, E A Peeters, F Schoute, Lies H. Hoefsloot, Jean-Pierre Fryns, C.G. Woods

Publikováno v: European Journal of Human Genetics, 7, 3, pp. 267-273
European Journal of Human Genetics, 7, 267-273
European Journal of Human Genetics, 7(3), 267-273. Nature Publishing Group

Cowden disease (CD) is characterised by multiple hamartomas in a variety of tissues. The pathological hallmark is the presence of a number of trichilemmomas. Several neurological symptoms are also part of CD with megalencephaly and Lhermitte-Duclos d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::440d1b7eeea97ddee515a31320afd7fe
https://doi.org/10.1038/sj.ejhg.5200289

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

Autor: Stephan Kemp, Marjolijn J. L. Ligtenberg, Peter G. Barth, Jean-Louis Mandel, B.M. van Geel, Claude-Olivier Sarde, R. Wolterman, B.A. van Oost, F. Schoute, Pieter A. Bolhuis

Publikováno v: Biochemical and biophysical research communications, 202(2), 647-653. Academic Press Inc.

The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20cc8a0b7e7ced18239a5e70f832f34
https://doi.org/10.1006/bbrc.1994.1979

A fixed network design for site diversity enhanced wireless access

Autor: J.-D. Bakker, F. Schoute, M. Meinesz

Publikováno v: Gateway to 21st Century Communications Village. VTC 1999-Fall. IEEE VTS 50th Vehicular Technology Conference (Cat. No.99CH36324).

The virtual cellular network (VCN) is a network infrastructure that enables wireless connectivity by making use of site diversity. In site diversity a multitude of base stations simultaneously connect a mobile user to the fixed network. Base stations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::266c349ae3b470b84d4d1cd9c0248147
https://doi.org/10.1109/vetecf.1999.798592

Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic

Autor: F. Schoute, L.H. Hoefsloot, Joep H. A. M. Tuerlings, Dominique Smeets, H. M. W. M. Merkus, Edwin C. M. Mariman, Jan A.M. Kremer, Eric J.H. Meuleman, Didi D.M. Braat

Publikováno v: Human Reproduction, 12, 4, pp. 687-691
Human Reproduction, 12, 687-691

Intracytoplasmic sperm injection (ICSI) is a successful treatment option for severe male infertility, although the aetiology of the disorder remains unclear in most cases. Recently, microdeletions in the AZF region of the Y chromosome have been detec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fff61707c07ea0ae808f3054b14fb59
https://hdl.handle.net/2066/24403

Hierarchic recursive image enhancement

Autor: Jan C. Willems, M.t. Horst, F. Schoute

Publikováno v: IEEE Transactions on Circuits and Systems. 24:67-78

The problem that is solved in this paper can be formulated as: given an observation of an image against the background of additive noise and given the statistics of the image and the noise, find an optimal estimate of the image such that the computer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27b739c6dd09b0bd1c17409f4890aca5
https://doi.org/10.1109/tcs.1977.1084310