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Journal Article (167)

Journal Article
Laumonnier, F.; Ronce, N.; Hamel, B. C. J.; Thomas, P.; Jespinasse, J.; Raynaud, M.; Paringaux, C.; Bokhoven, H. v.; Kalscheuer, V.; Fryns, J.-P. et al.; Chelly, J.; Moraine, C.; Briault, S.: Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency. American Journal of Human Genetics 71 (6), pp. 1450 - 1455 (2002)
Journal Article
Borg, I.; Squire, M.; Menzel, C.; Stout, K.; Morgan, D.; Willatt, L.; O’Brien, P. C. M.; Ferguson-Smith, M. A.; Ropers, H. H.; Tommerup, N. et al.; Kalscheuer, V. M.; Sargan, D. R.: A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. Journal of Medical Genetics 39 (6), pp. 391 - 399 (2002)
Journal Article
Grabowski, M.; Zimprich, A.; Lorenz-Depiereux, B.; Kalscheuer, V.; Asmus, F.; Gasser, T.; Meitinger, T.; Strom, T. M.: Epsilon-sarcoglycan (SGCE), the gene mutated in myoclonus-dystonia syndrome, is imprinted. European Journal of Human Genetics 10 (Suppl. Suppl. 1), pp. 233 - 234 (2002)
Journal Article
Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L. B.; Zemni, R.; Vinet, M.-C.; Francis, F. et al.; Couvert, P.; Gomot, M.; Moraine, C.; Bokhoven, H. v.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.-P.; Desportes, V.; Beldjord, C.; Chelly, J.: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Human Molecular Genetics 11 (8), pp. 981 - 991 (2002)
Journal Article
Tümer, Z.; Croucher, P. J. P.; Jensen, L. R.; Hampe, J.; Hansen, C.; Kalscheuer, V.; Ropers, H. H.; Tommerup, N.; Schreiber, S.: Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2). Gene 288 (1-2), pp. 179 - 185 (2002)
Journal Article
Neitzel, H.; Kalscheuer, V.; Singh, A. P.; Henschel, S.; Sperling, K.: Copy and paste: the impact of a new non-L1 retroposon on the gonosomal heterochromatin of Microtus agrestis. Karl Fredga dedication volume, pp. 179 - 185 (2002)
Journal Article
Yntema, H. G.; Oudakker, A. R.; Kleefstra, T.; Hamel, B. C. J.; van Bokhoven, H.; Chelly, J.; Kalscheuer, V. M.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P. et al.; Moraine, C.: In-frame deletion in MECP2 causes mild nonspecific mental retardation. American Journal of Medical Genetics 107 (1), pp. 81 - 83 (2002)
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