Tjitske Kleefstra
RUNMC
849 Department of Human Genetics
PO Box 9101
6500 HB Nijmegen
The Netherlands;
Name/email consistency: high
- Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. Willemsen, M.H., Vallès, A., Kirkels, L.A., Mastebroek, M., Olde Loohuis, N., Kos, A., Wissink-Lindhout, W.M., de Brouwer, A.P., Nillesen, W.M., Pfundt, R., Holder-Espinasse, M., Vallée, L., Andrieux, J., Coppens-Hofman, M.C., Rensen, H., Hamel, B.C., van Bokhoven, H., Aschrafi, A., Kleefstra, T. J. Med. Genet. (2011)
- Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. Kleefstra, T., de Leeuw, N., Wolf, R., Nillesen, W.M., Schobers, G., Mieloo, H., Willemsen, M., Perrotta, C.S., Poddighe, P.J., Feenstra, I., Draaisma, J., van Ravenswaaij-Arts, C.M. Am. J. Med. Genet. A (2010)
- Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Kleefstra, T., van Zelst-Stams, W.A., Nillesen, W.M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M.H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M.P., Innes, M., Davies, C., López, A.G., Casalone, R., Weber, A., Brueton, L.A., Navarro, A.D., Bralo, M.P., Venselaar, H., Stegmann, S.P., Yntema, H.G., van Bokhoven, H., Brunner, H.G. J. Med. Genet. (2009)
- Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Kleefstra, T., Koolen, D.A., Nillesen, W.M., de Leeuw, N., Hamel, B.C., Veltman, J.A., Sistermans, E.A., van Bokhoven, H., van Ravenswaay, C., de Vries, B.B. Am. J. Med. Genet. A (2006)
- Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Kleefstra, T., Brunner, H.G., Amiel, J., Oudakker, A.R., Nillesen, W.M., Magee, A., Geneviève, D., Cormier-Daire, V., van Esch, H., Fryns, J.P., Hamel, B.C., Sistermans, E.A., de Vries, B.B., van Bokhoven, H. Am. J. Hum. Genet. (2006)
- MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Kleefstra, T., Yntema, H.G., Nillesen, W.M., Oudakker, A.R., Mullaart, R.A., Geerdink, N., van Bokhoven, H., de Vries, B.B., Sistermans, E.A., Hamel, B.C. Eur. J. Hum. Genet. (2004)
- Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Kleefstra, T., Franken, C.E., Arens, Y.H., Ramakers, G.J., Yntema, H.G., Sistermans, E.A., Hulsmans, C.F., Nillesen, W.N., van Bokhoven, H., de Vries, B.B., Hamel, B.C. Clin. Genet. (2004)
