All Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (7)

2002

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)

MPG.PuRe

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)

MPG.PuRe

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)

MPG.PuRe

DOI

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)

MPG.PuRe

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)

MPG.PuRe

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)

MPG.PuRe

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)

MPG.PuRe