All Publications

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)

Meyer, T.; Alber, B.; Roemer, K.; Martin, T.; Kalscheuer, V. M.; Gottert, E.; Zang, K. D.; Ludolph, A. C.; Ropers, H. H.; Prudlo, J.: High rate of constitutional chromosomal rearrangements in apparently sporadic ALS. Neurology 60 (8), pp. 1348 - 1350 (2003)

Morava, E.; Bartsch, O.; Czako, M.; Frensel, A.; Kalscheuer, V.; Karteszi, J.; Kosztolanyi, G.: Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clinical Dysmorphology 12 (2), pp. 123 - 127 (2003)

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), pp. 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), pp. 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), pp. 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), pp. 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), pp. 61 - 69 (2003)