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patient mutation protein syndrome deletion genet phenotype figure ehmt 1 gene arx protein feature transfected study behavior ipo 13 antibody region group chromosome kleefstra disorder radboud university nijmegen retardation v 5-ipo localization apathy probe arx-wt subtelomeric month 9 qstds problem myc-arx genetic result homeodomain binding university epilepsy 5-ipo arx homeodomain arx-wt protein domain analysis panel speech lissencephaly nijmegen transfected cells department mitotic novel cause nucleus psychiatry mitosi interaction missense mutations nls 2 adult marker family residue aggregate mitotic cells r 332p brain motor cells transfected peak height ratio verhoeven phase intragenic fi ndings netherland adult patients treatment ehmt 1 table birth weight
5 Most Recent Publications
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Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course
(Article)
Verhoeven, W.M.A. Egger, J.I.M Vermeulen, K.M. Warrenburg, B. van de Kleefstra, T. |
2011-10-01
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Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature
(Article)
Kleefstra, T. Leeuw, N. de Draaisma, J. Ravenswaaij-Arts, C.M.A. van Wolf, R. Nillesen, W.M. Schobers, G. Mieloo, H. Willemsen, M.H. Perrotta, C.S. Poddighe, P. Feenstra, I. |
2010-09-01
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Behavioral phenotype in the 9q subtelomeric deletion syndrome: A report about two adult patients
(Article)
Verhoeven, W.M.A. Kleefstra, T. Egger, J.I.M |
2010-03-01
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Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
(Article)
Shoubridge, C. Tan, M. Fullston, T. Cloosterman, D. Coman, D. McGillivray, G. Mancini, G.M.S. Kleefstra, T. Gecz, J. |
2010-02-22
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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
(Article)
Kleefstra, T. Zelst-Stams, W.A. van Wilson, M. McGaughran, J. Zenker, M. Adam, M.P. Innes, M. Davies, C. González-Meneses López, A. Casalone, R. Weber, A. Brueton, L.A. Nillesen, W.M. Delicado Navarro, A. Palomares Bralo, M. Venselaar, H. Rauch, A. Stegmann, S.P.A. Yntema, H.G. Bokhoven, H. van Brunner, H.G. Cormier-Daire, V. Houge, G. Foulds, N. Dooren, M.F. van Willemsen, M.H. Pfundt, R. Turner, A. |
2009-09-01
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