Suchergebnisse

Horn, D.; Neitzel, H.; Tonnies, H.; Kalscheuer, V.; Kunze, J.; Hinkel, G. K.; Bartsch, O.: Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. American Journal of Medical Genetics Part A 117A (3), S. 236 - 244 (2003)

Winter, J.; Lehmann, T.; Suckow, V.; Kijas, Z.; Kulozik, A.; Kalscheuer, V.; Hamel, B.; Devriendt, K.; Opitz, J.; Lenzner, S. et al.; Ropers, H.-H.; Schweiger, S.: Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Human Genetics 112 (3), S. 249 - 254 (2003)

Grabowski, M.; Zimprich, A.; Lorenz-Depiereux, B.; Kalscheuer, V.; Asmus, F.; Gasser, T.; Meitinger, T.; Strom, T. M.: The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. European Journal of Human Genetics 11 (2), S. 138 - 144 (2003)

Musante, L.; Kehl, H. G.; Majewski, F.; Meinecke, P.; Schweiger, S.; Gillessen-Kaesbach, G.; Wieczorek, D.; Hinkel, G. K.; Tinschert, S.; Hoeltzenbein, M. et al.; Ropers, H.-H.; Kalscheuer, V. M.: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome. European Journal of Human Genetics 11 (2), S. 201 - 206 (2003)

Shultz, L. D.; Lyons, B. L.; Burzenski, L. M.; Gott, B.; Samuels, R.; Schweitzer, P. A.; Dreger, C.; Herrmann, H.; Kalscheuer, V.; Olins, A. L. et al.; Olins, D. E.; Sperling, K.; Hoffmann, K.: Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Human Molecular Genetics 12 (1), S. 61 - 69 (2003)

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), S. 1450 - 1455 (2002)

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), S. 391 - 399 (2002)

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), S. 233 - 234 (2002)

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), S. 981 - 991 (2002)

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), S. 179 - 185 (2002)

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, S. 179 - 185 (2002)

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), S. 81 - 83 (2002)