Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bruno Vankeirsbilck"'
Autor:
Michelle Thonissen, Marloes Steehouwer, Maartje van de Vorst, K Dreesen, Shalini N. Jhangiani, Carine Carels, Han G. Brunner, Marjon Bloemen, Vincent Vander Poorten, Joep de Ligt, Elisabeth Mangold, Christian Gilissen, Charlotte W. Ockeloen, Joseph Schoenaers, Ellen van Beusekom, Nina Ishorst, Federica Conte, Rolph Pfundt, Tjitske Kleefstra, Robert Sullivan, Huiqing Zhou, Lisenka E.L.M. Vissers, Anna Verdonck, Iris A.L.M. van Rooij, Johannes W. Von den Hoff, Kriti D. Khandelwal, Arjen Henkes, Koenraad Devriendt, Alexander Hoischen, Bruno Vankeirsbilck, Milien Phan, Nel Roeleveldt, Greet Hens, James R. Lupski, Jasmien Roosenboom, Steven Swinnen, Stefaan J. Bergé, Hans van Bokhoven, Kerstin U. Ludwig, Laury A Roa Fuentes, Michael J. Dixon, Jill Dixon
Publikováno v:
Genetics in Medicine, 18, 11, pp. 1158-1162
Genetics in Medicine, 18(11), 1158. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 18, 1158-1162
Genetics in Medicine, 18(11), 1158. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 18, 1158-1162
Contains fulltext : 165724.pdf (Publisher’s version ) (Open Access) PURPOSE: We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted resequencing in a
Autor:
Patrick Franken, Frans B. L. Hogervorst, Carli M. J. Tops, Riccardo Fodde, Frederik J. Hes, Kathleen Claes, Astrid A. Out, Marie-Pierre Buisine, Stefan Aretz, Shirley Hodgson, Julian R. Sampson, Elke Holinski-Feder, Johan T. den Dunnen, Juul T. Wijnen, Egbert J.W. Redeker, Karl Heinimann, Kristina Lagerstedt-Robinson, Ivonne J. H. M. van Minderhout, Mette Gaustadnes, Maartje Nielsen, Friedrik P. Wikman, Marjan M. Weiss, Chrystelle Colas, Florentia Fostira, Bruno Vankeirsbilck, Ans M.W. van den Ouweland, Rikke Veggerby Grønlund, Peter Devilee, Rodney J. Scott, Sylviane Olschwang, Ivo F.A.C. Fokkema
Publikováno v:
Out, A A, Tops, C M J, Nielsen, M, Weiss, M M, van Minderhout, I J H M, Fokkema, I F A C, Buisine, M-P, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, P F, Gaustadnes, M, Heinimann, K, Hodgson, S V, Hogervorst, F B L, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, A M W, Redeker, E J W, Scott, R J, Vankeirsbilck, B, Grønlund, R V, Wijnen, J T, Wikman, F P, Aretz, S, Sampson, J R, Devilee, P, den Dunnen, J T & Hes, F J 2010, ' Leiden Open Variation Database of the MUTYH gene ', Human Mutation, vol. 31, no. 11, pp. 1205-15 . https://doi.org/10.1002/humu.21343
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.
The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A>G/p.
Autor:
S Van Opstal, E. Van Cutsem, Sabine Tejpar, Gert Matthijs, Bruno Vankeirsbilck, Eric Legius, Marijke Spaepen, Karel Geboes
Publikováno v:
Familial Cancer. 5:179-189
Background: Hereditary nonpolyposis colon cancer (HNPCC-Lynch syndrome) is caused by mutations in genes involved in DNA mismatch repair (MMR), mostly in the hMLH1 and hMSH2 genes. The mutation spectrum in the Belgian population is still poorly docume
Autor:
Geneviève Michils, Stephan Schrooten, Bruno Vankeirsbilck, Zandra Clark, Shirley McQuaid, Elisabeth Dequeker, Gert Matthijs, Harvey Js, Els Schollen, Eric van den Akker, Ron van Schooten
Publikováno v:
Human mutation. 25(6)
Genetic testing in a clinical diagnostic environment must be subject to rigorous quality control procedures, in order to ensure consistency and accuracy of results. Denaturing high performance liquid chromatography (DHPLC) has become a standard presc