Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Margreethe van Vliet"'
Autor:
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham
Publikováno v:
Human Mutation, 43(12), 2130-2140. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3d626b36d5a4ec4586b987251a1250
https://hdl.handle.net/1887/3563778
https://hdl.handle.net/1887/3563778
Autor:
Mark Nellist, Hannie C.W. Douben, Marianne Hoogeveen-Westerveld, Jesse Louwen, Marian Kroos-de Haan, Mattijs Punt, Babeth van Ommeren, Leontine van Unen, P. Elfferich, Esmee Kasteleijn, Yolande Van Bever, Margreethe van Vliet, Rianne Oostenbrink, Jasper Saris, Anja Wagner, Yvette van Ierland, Tjakko J. van Ham, Rick Van Minkelen
Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1. NF1 encodes neurofibromin (NF), a GTPase activating protein (GAP) for RAS, that interacts with the SPRED1 product, Sprouty-related protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e1024230efe742daca9f97bb001b8ab
https://doi.org/10.22541/au.165217208.81458305/v1
https://doi.org/10.22541/au.165217208.81458305/v1
Autor:
Peter S. Oud, Gert Jan Fleuren, Cees J. Cornelisse, Michael C.B. Gorsira, Willem E. Corver, Bert A. Bonsing, Margreethe van Vliet
Publikováno v:
Cytometry. 28:11-24
p53 immunostaining of histological sections shows inter- and intratumor variability in distribution and staining intensity which are usually scored semiquantitatively. In order to investigate the variation in p53 expression more accurately and its po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb2c8a4de70265859046ef7cec80faea
https://doi.org/10.1002/(sici)1097-0320(19970501)28:1<11::aid-cyto2>3.0.co
https://doi.org/10.1002/(sici)1097-0320(19970501)28:1<11::aid-cyto2>3.0.co
Autor:
Hanne Meijers-Heijboer, Cees J. Cornelisse, Peter Devilee, Tamara Peelen, Margreethe van Vliet, Anne-Marie Cleton-Jansen, Anne Petrij-Bosch, Jan G. M. Klijn, Hans F. A. Vasen, R.S. Cornelis
Publikováno v:
European journal of human genetics, 4(4), 225-230. Nature Publishing Group
Europe PubMed Central
Europe PubMed Central
We have analyzed, by a combination of mutation and linkage analysis, the genetic basis of 22 breast cancer families in which at least 4 cases of either breast cancer diagnosed under the age of 60 or ovarian cancer had occurred. Chain-terminating muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56215285b1f2cb87194438076675f140
https://doi.org/10.1159/000472203
https://doi.org/10.1159/000472203
Autor:
Peter Heutink, Andel G. L. van der Mey, Lodewijk A. Sandkuijl, Ad P. G. van Gils, Alfons Bardoel, Guido J. Breedveld, Margreethe van Vliet, Gert-Jan B. van Ommen, Cees J. Cornelisse, Ben A. Oostra, Jim L. Weber, Peter Devilee
Publikováno v:
Human Molecular Genetics. 1:7-10
Paragangliomas of the head and neck are slow growing tumors which rarely show malignant progression. Familial transmission has been described consistent with an autosomal dominant mode of inheritance. Clinical manifestations of hereditary paraganglio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa3b2a8d7b38f7335777d1bd1c3ddef
https://doi.org/10.1093/hmg/1.1.7
https://doi.org/10.1093/hmg/1.1.7
Autor:
Jo Hermans, Cees J. Cornelisse, Nel J. Kuipers-Dijkshoorn, Margreethe van Vliet, Peter Devilee
Publikováno v:
Cancer Genetics and Cytogenetics. 63:156
We have previously reported a complete allelotype study of 86 primary breast carcinomas, in which each non-acrocentric chromosome arm was studied with at least one polymorphic DNA-marker for the presence of allelic imbalance (Al, allelic loss or alle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9638fb977d994c3b80fbb3843f38a2cb
https://doi.org/10.1016/0165-4608(92)90490-y
https://doi.org/10.1016/0165-4608(92)90490-y