Search Results - "Vandewalle, Joke"

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability by 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

“…We recently reported that duplication of the E3 ubiquitin ligase HUWE1 results in intellectual disability (ID) in male patients. However, the underlying…”
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Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination by Vandewalle, Joke, Van Esch, Hilde, Govaerts, Karen, Verbeeck, Jelle, Zweier, Christiane, Madrigal, Irene, Mila, Montserrat, Pijkels, Elly, Fernandez, Isabel, Kohlhase, Jürgen, Spaich, Christiane, Rauch, Anita, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy

“…We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with…”
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Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation by 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

“…Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at…”
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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability by 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

“…Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X…”
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Correction: Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability by Vandewalle, Joke, Langen, Marion, 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

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Correction: Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Model for Intellectual Disability by 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

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Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation by Froyen, Guy, Corbett, Mark, Vandewalle, Joke, Jarvela, Irma, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Esch, Hilde Van, Chelly, Jamel, Saniaville, Damien, Bokhoven, Hans van, 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

“…Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at…”
Get full text