Publications of Vera M. Kalscheuer

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)

Gomot, M.; Gendrot, C.; Verloes, A.; Raynaud, M.; David, A.; Yntema, H. G.; Dessay, S.; Kalscheuer, V.; Frints, S.; Convert, P. et al.; Briault, S.; Blesson, S.; Toutain, A.; Chelly, J.; Desportes, V.; Moraine, C.: MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation. American Journal of Medical Genetics Part A 123A (2), pp. 129 - 139 (2003)

Kalscheuer, V. M.; Freude, K.; Musante, L.; Jensen, L. R.; Yntema, H. G.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S. et al.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.-C.; Shoichet, S.; Hagens, O.; Tao, J.; van Bokhoven, H.; Turner, G.; Chelly, J.; Moraine, C.; Fryns, J.-P.; Nuber, U.; Hoeltzenbein, M.; Scharff, C.; Scherthan, H.; Lenzner, S.; Hamel, B. C. J.; Schweiger, S.; Ropers, H.-H.: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics 35 (4), pp. 313 - 315 (2003)

Shoichet, S. A.; Hoffmann, K.; Menzel, C.; Trautmann, U.; Moser, B.; Hoeltzenbein, M.; Echenne, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.-P. et al.; Chelly, J.; Rott, H.-D.; Ropers, H.-H.; Kalscheuer, V. M.: Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. American Journal of Human Genetics 73 (6), pp. 1341 - 1354 (2003)

Engels, H.; Ehrbrecht, A.; Zahn, S.; Bosse, K.; Vrolijk, H.; White, S.; Kalscheuer, V.; Hoovers, J. M. N.; Schwanitz, G.; Propping, P. et al.; Tanke, H. J.; Wiegant, J.; Raap, A. K.: Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. European Journal of Human Genetics 11 (9), pp. 643 - 651 (2003)

Frints, S. G. M.; Jun, L.; Fryns, J.-P.; Devriendt, K.; Teulingkx, R.; Van den Berghe, L.; De Vos, B.; Borghgraef, M.; Chelly, J.; Des Portes, V. et al.; Van Bokhoven, H.; Hamel, B.; Ropers, H.-H.; Kalscheuer, V.; Raynaud, M.; Moraine, C.; Marynen, P.; Froyen, G.: Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 gene. American Journal of Medical Genetics Part A 119A (3), pp. 367 - 374 (2003)

Kalscheuer, V. M.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H. et al.; Harbord, M.; Haan, E.; Sutherland, G. R.; Ropers, H.-H.; Gécz, J.: Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. American Journal of Human Genetics 72 (6), pp. 1401 - 1411 (2003)

Ropers, H.-H.; Hoeltzenbein, M.; Kalscheuer, V.; Yntema, H.; Hamel, B.; Fryns, J.-P.; Chelly, J.; Partington, M.; Gecz, J.; Moraine, C.: Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends in Genetics 19 (6), pp. 316 - 320 (2003)