Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Marijke Bauters"'
Autor:
Joke Vandewalle, Marion Langen, Marlen Zschaetzsch, Bonnie Nijhof, Jamie M. Kramer, Hilde Brems, Marijke Bauters, Elsa Lauwers, Mohammed Srahna, Peter Marynen, Patrik Verstreken, Annette Schenck, Bassem A. Hassan, Guy Froyen
Publikováno v:
PLoS ONE, Vol 9, Iss 1 (2014)
Externí odkaz:
https://doaj.org/article/779bbb56762945a9ac29530eafa5a67c
Autor:
Joke Vandewalle, Marion Langen, Marlen Zschätzsch, Bonnie Nijhof, Jamie M Kramer, Hilde Brems, Marijke Bauters, Elsa Lauwers, Mohammed Srahna, Peter Marynen, Patrik Verstreken, Annette Schenck, Bassem A Hassan, Guy Froyen
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e81791 (2013)
We recently reported that duplication of the E3 ubiquitin ligase HUWE1 results in intellectual disability (ID) in male patients. However, the underlying molecular mechanism remains unknown. We used Drosophila melanogaster as a model to investigate th
Externí odkaz:
https://doaj.org/article/5ed43426dfef4d72af665090c208249c
Autor:
David Cassiman, Marijke Bauters, Nancy Boeckx, Isabelle Adant, Koen Devriendt, Mathias Declercq, Peter Witters, Matthew Bird
Publikováno v:
Journal of Hepatology. 72:1030-1032
Autor:
Maureen Holvoet, Koenraad Devriendt, Joris Vermeesch, Kris Van Den Bogaert, Marijke Bauters, Mio Aerden, Frank Plasschaert
Publikováno v:
European journal of medical genetics. 63(11)
Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectroda
Publikováno v:
British Medical Bulletin.
Background Intellectual disability (ID) affects 1–3% of the Western population and is heterogeneous in origin. Mutations in X-linked genes represent 5–10% of ID in males. Fragile X syndrome, due to the silencing of the FMR1 gene, is the most comm
Autor:
Luc De Catte, Valerie Race, Jeroen Breckpot, Anniek Corveleyn, Michael Aertsen, Thomy de Ravel, Kris Van Den Bogaert, Marijke Bauters, Liesbeth Lewi, Marcella Baldewijns, Eric Legius, Evelien Van Hoof, Ellen Denayer, Koenraad Devriendt, Berardo Rinaldi
The application of next-generation sequencing to fetal pathology has proved to increase the diagnostic yield in fetuses with abnormal ultrasounds. We retrospectively reviewed genetic data of 30 selected cases studied through targeted resequencing of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6cef7284f65a9368ee0c6c60fbcfabe
https://biblio.vub.ac.be/vubir/(3627d61a-493e-4c81-9b18-7ddb611e194b).html
https://biblio.vub.ac.be/vubir/(3627d61a-493e-4c81-9b18-7ddb611e194b).html
Autor:
Rolph Pfundt, Bregje W.M. van Bon, Petra de Vries, Carl Baker, Marloes Steehouwer, Bradley P. Coe, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Han G. Brunner, David A. Koolen, Caroline Nava, Daniëlle G. M. Bosch, Anna Hackett, Hilde Van Esch, Fleur Vansenne, Alexander Hoischen, Christian Gilissen, Kali Witherspoon, Heather C Mefford, Martin Jakob Larsen, Janneke H M Schuurs-Hoeijmakers, Malin Kvarnung, Gemma L. Carvill, Bert B.A. de Vries, Fiona Haslam McKenzie, Maartje van de Vorst, Mirella Vinci, Jozef Gecz, Carlo Marcelis, Sandra Jansen, Marijke Bauters, Raphael Bernier, Joris A. Veltman, Corrado Romano, Evan E. Eichler, Ulla A Andersen, Hedi L Claahsen-van der Grinten, Connie T.R.M. Stumpel, Lucia Grillo, Marie Lorraine Monin, Servi J. C. Stevens
Publikováno v:
European Journal of Human Genetics, 26(1), 54. Nature Publishing Group
European Journal of Human Genetics, 26(1), 54-63. Nature Publishing Group
European Journal of Human Genetics, 26, 54-63
European Journal of Human Genetics, 26, 1, pp. 54-63
Jansen, S, Hoischen, A, Coe, B P, Carvill, G L, Van Esch, H, Bosch, D G M, Andersen, U A, Baker, C, Bauters, M, Bernier, R A, van Bon, B W, Claahsen-van der Grinten, H L, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, M J, Marcelis, C, McKenzie, F, Monin, M-L, Nava, C, Schuurs-Hoeijmakers, J H, Pfundt, R, Steehouwer, M, Stevens, S J C, Stumpel, C T, Vansenne, F, Vinci, M, van de Vorst, M, Vries, P D, Witherspoon, K, Veltman, J A, Brunner, H G, Mefford, H C, Romano, C, Vissers, L E L M, Eichler, E E & de Vries, B B A 2018, ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ', European Journal of Human Genetics, vol. 26, no. 1, pp. 54–63 . https://doi.org/10.1038/s41431-017-0039-5
European Journal of Human Genetics, 26(1), 54-63. Nature Publishing Group
European Journal of Human Genetics, 26, 54-63
European Journal of Human Genetics, 26, 1, pp. 54-63
Jansen, S, Hoischen, A, Coe, B P, Carvill, G L, Van Esch, H, Bosch, D G M, Andersen, U A, Baker, C, Bauters, M, Bernier, R A, van Bon, B W, Claahsen-van der Grinten, H L, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, M J, Marcelis, C, McKenzie, F, Monin, M-L, Nava, C, Schuurs-Hoeijmakers, J H, Pfundt, R, Steehouwer, M, Stevens, S J C, Stumpel, C T, Vansenne, F, Vinci, M, van de Vorst, M, Vries, P D, Witherspoon, K, Veltman, J A, Brunner, H G, Mefford, H C, Romano, C, Vissers, L E L M, Eichler, E E & de Vries, B B A 2018, ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ', European Journal of Human Genetics, vol. 26, no. 1, pp. 54–63 . https://doi.org/10.1038/s41431-017-0039-5
Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these
Autor:
Jozef Van Driessche, Guy Froyen, Stefanie Belet, Nathalie Fieremans, Hilde Van Esch, Marijke Bauters, Thomy de Ravel
Publikováno v:
European Journal of Medical Genetics. 58:324-327
Intellectual disability (ID) is a very heterogeneous disorder with over 100 ID genes located on the X chromosome alone. Of these, KDM5C and IQSEC2 are located adjacent to each other at the Xp11.22 locus. While mutations in either of these genes are a
Promoting role of cholecystokinin 2 receptor (CCK2R) in gastrointestinal stromal tumour pathogenesis
Autor:
Barbara Dewaele, Maria Debiec-Rychter, Marijke Bauters, Patrick Schöffski, Vanessa Vanspauwen, Anna Quattrone, Raf Sciot, Frédéric Chibon, Agnieszka Wozniak, Giuseppe Floris, Jean-Michel Coindre
Publikováno v:
The Journal of Pathology. 228:565-574
The cholecystokinin 2 receptor (CCK2R/CCKBR) is expressed in gastrointestinal stromal tumours (GISTs). We sought to investigate the role of CCK2R in GIST pathogenesis. Molecular characterization of CCK2R was performed on a heterogeneous cohort of 50
Autor:
Marijke Bauters, Marc Gewillig, Bernard Thienpont, Léon-Charles Tranchevent, Yves Moreau, Jeroen Breckpot, Joris Vermeesch, Koenraad Devriendt, Karel Allegaert
Publikováno v:
American Journal of Medical Genetics Part A. :574-580
The proximal region of the long arm of chromosome 22 is rich in low copy repeats (LCR). Non-allelic homologous recombination (NAHR) between these substrates explains the high prevalence of recurrent rearrangements within this region. We have performe