All Publications

Tao, J.; Van Esch, H.; Hagedorn-Greiwe, M.; Hoffmann, K.; Moser, B.; Raynaud, M.; Sperner, J.; Fryns, J.-P.; Schwinger, E.; Gécz, J. et al.; Ropers, H.-H.; Kalscheuer, V. M.: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. American Journal of Human Genetics 75 (6), pp. 1149 - 1154 (2004)

Tümer, Z.; Harboe, T.L.; Blennow, E.; Kalscheuer, V. M.; Tommerup, N.; Brøndum-Nielsen, K.: Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. American Journal of Medical Genetics 130A (4), pp. 340 - 344 (2004)

Bache, I.; Van Assche, E.; Cingoz, S.; Bugge, M.; Tümer, Z.; Hjorth, M.; Lundsteen, C.; Lespinasse, J.; Winther, K.; Niebuhr, A. et al.; Kalscheuer, V.; Liebaers, I.; Bonduelle, M.; Tournaye, H.; Ayuso, C.; Barbi, G.; Blennow, E.; Bourrouillou, G.; Brondum-Nielsen, K.; Bruun-Petersen, G.; Croquette, M.-F.; Dahoun, S.; Dallapiccola, B.; Davison, V.; Delobel, B.; Duba, H.-C.; Duprez, L.; Ferguson-Smith, M.; FitzPatrick, D. R.; Grace, E.; Hansmann, I.; Hultén, M.; Jensen, P. K. A.; Jonveaux, P.; Kristoffersson, U.; Lopez-Pajares, I.; McGowan-Jordan, J.; Murken, J.; Orera, M.; Parkin, T.; Passarge, E.; Ramos, C.; Rasmussen, K.; Schempp, W.; Schubert, R.; Schwinger, E.; Shabtai, F.; Smith, K.; Stallings, R.; Stefanova, M.; Tranebjerg, L.; Turleau, C.; van der Hagen, C. B.; Vekemans, M.; Vokac, N. K.; Wagner, K.; Wahlstroem, J.; Zelante, L.; Tommerup, N.: An excess of chromosome 1 breakpoints in male infertility. European Journal of Human Genetics 12 (12), pp. 993 - 1000 (2004)

Walter, S.; Sandig, K.; Hinkel, G. K.; Mitulla, B.; Ounap, K.; Sims, G.; Sitska, M.; Utermann, B.; Viertel, P.; Kalscheuer, V. M. et al.; Bartsch, O.: Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. American Journal of Medical Genetics 128A (4), pp. 364 - 373 (2004)

Freude, K.; Hoffmann, K.; Jensen, L.-R.; Delatycki, M. B.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.-P. et al.; Chelly, J.; Gécz, J.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.: Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 75 (2), pp. 305 - 309 (2004)

Musante, L.; Bartsch, O.; Ropers, H.-H.; Kalscheuer, V. M.: cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. Gene 332, pp. 119 - 127 (2004)

Winter, J.; Lehmann, T.; Krauß, S.; Trockenbacher, A.; Kijas, Z.; Foerster, J.; Suckow, V.; Yaspo, M.-L.; Kulozik, A.; Kalscheuer, V. M. et al.; Schneider, R.; Schweiger, S.: Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 114 (6), pp. 541 - 552 (2004)

Winter, J.; Lehmann, T.; Krauß, S.; Trockenbacher, A.; Kijas, Z.; Foerster, J.; Suckow, V.; Yaspo, M.-L.; Kulozik, A.; Kalscheuer, V. M. et al.; Schneider, R.; Schweiger, S.: Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 114 (6), pp. 541 - 552 (2004)

Hertz, J. M.; Sivertsen, B.; Silahtaroglu, A.; Bugge, M.; Kalscheuer, V. M.; Weber, A.; Wirth, J.; Ropers, H.-H.; Tommerup, N.; Tümer, Z.: Early onset, non-progressive, mild cerebellar ataxia cosegregating with a familial balanced translocation t(8;20)(p22;q13). Journal of Medical Genetics 41, p. e25 - e25 (2004)

Kleefstra, T.; Yntema, H. G.; Oudakker, A. R.; Banning, M. J. G.; Kalscheuer, V. M.; Chelly, J.; Moraine, C.; Ropers, H.-H.; Fryns, J.-P.; Janssen, I. M. J. et al.; Sistermans, E. A.; Nillesen, W. N.; de Vries, L. B. A.; Hamel, B. C. J.; van Bokhoven, H.: Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. Journal of Medical Genetics 41 (5), pp. 394 - 399 (2004)

Midro, A. T.; Panasiuk, B.; Tümer, Z.; Stankiewicz, P.; Silahtaroglu, A.; Lupski, J. R.; Zemanova, Z.; Stasiewicz-Jarocka, B.; Hubert, E.; Tarasów, E. et al.; Famulski, W.; Zadrona-Tolwinska, B.; Wasilewska, E.; Kirchhoff, M.; Kalscheuer, V. M.; Michalova, K.; Tommerup, N.: Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-patella syndrome. American Journal of Medical Genetics Part A 135A (3), pp. 179 - 191 (2004)

Zechner, U.; Shi, W.; Hemberger, M.; Himmelbauer, H.; Otto, S.; Orth, A.; Kalscheuer, V. M.; Fischer, U.; Elango, R.; Reis, A. et al.; Vogel, W.; Ropers, H.-H.; Rüschendorf, F.; Fundele, R.: Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus. Journal of Evolutionary Biology 17 (2), pp. 453 - 460 (2004)

Foerster, J.; Nolte, I.; Schweiger, S.; Ehlert, C.; Bruinenberg, M.; Spaar, K.; van der Steege, G.; Mulder, M.; Kalscheuer, V. M.; Moser, B. et al.; Kijas, Z.; Seeman, P.; Ständer, M.; Sterry, W.; te Meerman, G.: Evaluation of the IRF-2 gene as a candidate for PSORS3. Journal of Investigative Dermatology 122 (1), pp. 61 - 64 (2004)

Prudlo, J.; Alber, B.; Kalscheuer, V. M.; Roemer, K.; Martin, T.; Dullinger, J.; Sittinger, H.; Niemann, S.; Heutink, P.; Ludolph, A. C. et al.; Ropers, H.-H.; Zang, K.; Meyer, T.: Chromosal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS. Annals of Neurology 55 (1), pp. 134 - 13 (2004)