Challenges in molecular diagnosis of X-linked Intellectual disability
De Luca, Chiara, Race, Valérie, Keldermans, Liesbeth, Bauters, Marijke, Van Esch, Hilde
Published in British medical bulletin (15.05.2020)
Published in British medical bulletin (15.05.2020)
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Journal Article
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
Van Esch, Hilde, Bauters, Marijke, Ignatius, Jaakko, Jansen, Mieke, Raynaud, Martine, Hollanders, Karen, Lugtenberg, Dorien, Bienvenu, Thierry, Jensen, Lars Riff, Gécz, Jozef, Moraine, Claude, Marynen, Peter, Fryns, Jean-Pierre, Froyen, Guy
Published in American journal of human genetics (01.09.2005)
Published in American journal of human genetics (01.09.2005)
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Journal Article
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Bauters, Marijke, Van Esch, Hilde, Friez, Michael J, Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M, Rosenberg, Carla, Ignatius, Jaakko, Raynaud, Martine, Hollanders, Karen, Govaerts, Karen, Vandenreijt, Kris, Niel, Florence, Blanc, Pierre, Stevenson, Roger E, Fryns, Jean-Pierre, Marynen, Peter, Schwartz, Charles E, Froyen, Guy
Published in Genome Research (01.06.2008)
Published in Genome Research (01.06.2008)
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Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability
Vandewalle, Joke, Langen, Marion, Zschätzsch, Marlen, Zschaetzsch, Marlen, Nijhof, Bonnie, Kramer, Jamie M, Brems, Hilde, Bauters, Marijke, Lauwers, Elsa, Srahna, Mohammed, Marynen, Peter, Verstreken, Patrik, Schenck, Annette, Hassan, Bassem A, Froyen, Guy
Published in PloS one (26.11.2013)
Published in PloS one (26.11.2013)
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Journal Article
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects
Bauters, Marijke, Frints, Suzanna G., Van Esch, Hilde, Spruijt, Liesbeth, Baldewijns, Marcella M., Die-Smulders, Christine E. M. de, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1
Breckpot, Jeroen, Thienpont, Bernard, Bauters, Marijke, Tranchevent, Leon-Charles, Gewillig, Marc, Allegaert, Karel, Vermeesch, Joris R., Moreau, Yves, Devriendt, Koenraad
Published in American journal of medical genetics. Part A (01.03.2012)
Published in American journal of medical genetics. Part A (01.03.2012)
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Journal Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
FROYEN, Guy, BAUTERS, Marijke, MARYNEN, Peter, GECZ, Jozef, TURNER, Gillian, BOYLE, Jackie, VAN ESCH, Hilde, GOVAERTS, Karen, VAN BOKHOVEN, Hans, ROPERS, Hans-Hilger, MORAINE, Claude, CHELLY, Jamel, FRYNS, Jean-Pierre
Published in Human genetics (01.06.2007)
Published in Human genetics (01.06.2007)
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Journal Article
X chromosome array-CGH for the identification of novel X-linked mental retardation genes
Bauters, Marijke, Van Esch, Hilde, Marynen, Peter, Froyen, Guy
Published in European journal of medical genetics (01.07.2005)
Published in European journal of medical genetics (01.07.2005)
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Journal Article
Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations
Adant, Isabelle, Declercq, Mathias, Bird, Matthew, Bauters, Marijke, Boeckx, Nancy, Devriendt, Koen, Cassiman, David, Witters, Peter
Published in Journal of hepatology (01.05.2020)
Published in Journal of hepatology (01.05.2020)
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Journal Article
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
Aerden, Mio, Bauters, Marijke, Van Den Bogaert, Kris, Vermeesch, Joris R., Holvoet, Maureen, Plasschaert, Frank, Devriendt, Koenraad
Published in European journal of medical genetics (01.11.2020)
Published in European journal of medical genetics (01.11.2020)
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Journal Article
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Hannes, Laurens, Atzori, Marta, Goldenberg, Alice, Argente, Jesús, Attie-Bitach, Tania, Amiel, Jeanne, Attanasio, Catia, Braslavsky, Débora G., Bruel, Ange-Line, Castanet, Mireille, Dubourg, Christèle, Jacobs, An, Lyonnet, Stanislas, Martinez-Mayer, Julian, Pérez Millán, María Inés, Pezzella, Nunziana, Pelgrims, Elise, Aerden, Mio, Bauters, Marijke, Rochtus, Anne, Scaglia, Paula, Swillen, Ann, Sifrim, Alejandro, Tammaro, Roberta, Mau-Them, Frederic Tran, Odent, Sylvie, Thauvin-Robinet, Christel, Franco, Brunella, Breckpot, Jeroen
Published in Genetics in medicine (01.04.2024)
Published in Genetics in medicine (01.04.2024)
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Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
Rinaldi, Berardo, Race, Valerie, Corveleyn, Anniek, Van Hoof, Evelien, Bauters, Marijke, Van Den Bogaert, Kris, Denayer, Ellen, de Ravel, Thomy, Legius, Eric, Baldewijns, Marcella, Aertsen, Michael, Lewi, Liesbeth, De Catte, Luc, Breckpot, Jeroen, Devriendt, Koenraad
Published in European journal of medical genetics (01.05.2020)
Published in European journal of medical genetics (01.05.2020)
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Journal Article
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
Fieremans, Nathalie, Bauters, Marijke, Belet, Stefanie, Verbeeck, Jelle, Jansen, Anna C., Seneca, Sara, Roelens, Filip, De Baere, Elfride, Marynen, Peter, Froyen, Guy
Published in Human genetics (01.11.2014)
Published in Human genetics (01.11.2014)
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Journal Article
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features
Fieremans, Nathalie, Van Esch, Hilde, de Ravel, Thomy, Van Driessche, Jozef, Belet, Stefanie, Bauters, Marijke, Froyen, Guy
Published in European journal of medical genetics (01.05.2015)
Published in European journal of medical genetics (01.05.2015)
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Journal Article
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
Cools, Jan, Van Vlierberghe, Pieter, Cauwelier, Barbara, Pieters, Rob, Bauters, Marijke, Marynen, Peter, Lahortiga, Idoya, Wlodarska, Iwona, Meijerink, Jules P P, Graux, Carlos, Mentens, Nicole, Froyen, Guy, Beverloo, H Berna, Lambert, Frederic, Odero, Maria D, Speleman, Frank, Vandenberghe, Peter, De Keersmaecker, Kim
Published in Nature genetics (01.05.2007)
Published in Nature genetics (01.05.2007)
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Web Resource
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes
Froyen, Guy, Van Esch, Hilde, Bauters, Marijke, Hollanders, Karen, Frints, Suzanna G.M, Vermeesch, Joris R, Devriendt, Koen, Fryns, Jean-Pierre, Marynen, Peter
Published in Human mutation (01.10.2007)
Published in Human mutation (01.10.2007)
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Journal Article
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
Froyen, Guy, Corbett, Mark, Vandewalle, Joke, Jarvela, Irma, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef
Published in American journal of human genetics (01.02.2008)
Published in American journal of human genetics (01.02.2008)
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Journal Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
Vandewalle, Joke, Bauters, Marijke, Van Esch, Hilde, Belet, Stefanie, Verbeeck, Jelle, Fieremans, Nathalie, Holvoet, Maureen, Vento, Jodie, Spreiz, Ana, Kotzot, Dieter, Haberlandt, Edda, Rosenfeld, Jill, Andrieux, Joris, Delobel, Bruno, Dehouck, Marie-Bertille, Devriendt, Koen, Fryns, Jean-Pierre, Marynen, Peter, Goldstein, Amy, Froyen, Guy
Published in Human genetics (01.10.2013)
Published in Human genetics (01.10.2013)
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Journal Article
Promoting role of cholecystokinin 2 receptor (CCK2R) in gastrointestinal stromal tumour pathogenesis
Quattrone, Anna, Dewaele, Barbara, Wozniak, Agnieszka, Bauters, Marijke, Vanspauwen, Vanessa, Floris, Giuseppe, Schöffski, Patrick, Chibon, Frederic, Coindre, Jean-Michel, Sciot, Raf, Debiec-Rychter, Maria
Published in The Journal of pathology (01.12.2012)
Published in The Journal of pathology (01.12.2012)
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Journal Article
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
Van Esch, Hilde, Jansen, Anna, Bauters, Marijke, Froyen, Guy, Fryns, Jean‐Pierre
Published in American journal of medical genetics. Part A (15.02.2007)
Published in American journal of medical genetics. Part A (15.02.2007)
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