Publications of V. M. Kalscheuer

Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), pp. 247 - 253 (2006)

Bartsch, O.; Rasi, S.; Delicado, A.; Dyack, S.; Neumann, L. M.; Seemanová, E.; Volleth, M.; Haaf, T.; Kalscheuer, V. M.: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome. Human Genetics 120 (3), pp. 179 - 186 (2006)

Tagariello, A.; Heller, R.; Greven, A.; Kalscheuer, V. M.; Molter, T.; Rauch, A.; Kress, W.; Winterpacht, A.: Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region. Journal of Medical Genetics 43, pp. 534 - 540 (2006)

Piovani, G.; Borsani, G.; Bertini, V.; Kalscheuer, V. M.; Viertel, P.; Bellotti, D.; Valseriati, D.; Barlati, S.: Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype. European Journal of Medical Genetics 49 (3), pp. 215 - 223 (2006)

Gamerdinger, U.; Bosse, K.; Eggermann, T.; Kalscheuer, V. M.; Schwanitz, G.; Engels, H.: First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization. European Journal of Medical Genetics 49 (3), pp. 225 - 234 (2006)

Tzschach, A.; Krause-Plonka, I.; Menzel, C.; Knoblauch, A.; Toennies, H.; Hoeltzenbein, M.; Radke, M.; Ropers, H.-H.; Kalscheuer, V. M.: Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. American Journal of Medical Genetics Part A 140 (10), pp. 1108 - 1110 (2006)

Hagens, O.; Ballabio, A.; Kalscheuer, V. M.; Kraehenbuhl, J.-P.; Schiaffino, M. V.; Smith, P.; Staub, O.; Hildebrand, J.; Wallingford, J. B. ..: A new standard nomenclature for proteins related to Apx and Shroom. BMC Cell Biology 7, pp. 18 - 19 (2006)

Gilling, M.; Dullinger, J. S.; Gesk, S.; Metzke-Heidemann, S.; Siebert, R.; Meyer, T.; Brondum-Nielsen, K.; Tommerup, N.; Ropers, H.-H.; Tümer, Z. et al.; Kalscheuer, V. M.; Thomas, N. S.: Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans. American Journal of Human Genetics: AJHG / American Society of Human Genetics 78 (5), pp. 878 - 883 (2006)

Cossée, M.; Demeer, B.; Blanchet, P.; Echenne, B.; Singh, D.; Hagens, O.; Antin, M.; Finck, S.; Vallee, L.; Dollfus, H. et al.; Hegde, S.; Springell, K.; Thelma, B. K. ..; Woods, G.; Kalscheuer, V. M.; Mandel, J.-L.: Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics 14 (4), pp. 418 - 425 (2006)

Schubbert, S.; Zenker, M.; Rowe, S. L. ..; Böll, S.; Klein, C.; Bollag, G.; van der Burgt, I.; Musante, L.; Kalscheuer, V. M.; Wehner, L.-E. et al.; Nguyen, H.; West, B.; Zhang, K. Y. J.; Sistermans, E.; Rauch, A.; Niemeyer, C. M.; Shannon, K.; Kratz, C. P.: Germline KRAS mutations cause Noonan syndrome. Nature Genetics 38 (3), pp. 331 - 336 (2006)

Tzschach, A.; Krause-Plonka, I.; Menzel, C.; Kalscheuer, V. M.; Toennies, H.; Scherthan, H.; Knoblauch, A.; Radke, M.; Ropes, H.-H.; Hoeltzenbein, M.: Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics 140 (5), pp. 496 - 502 (2006)

Dlugaszewska, B.; Silahtaroglu, A.; Menzel, C.; Kübart, S.; Cohen, M.; Mundlos, S.; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, H.-H. et al.; Tommerup, N.; Neitzerl, H.; Kalscheuer, V. M.: Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 43 (2), pp. 111 - 118 (2006)

Dlugaszewska, B.; Silahtaroglu, A.; Menzel, C.; Kübart, S.; Cohen, M.; Mundlos, S.; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, H.-H. et al.; Tommerup, N.; Neitzerl, H.; Kalscheuer, V. M.: Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 43 (2), pp. 111 - 118 (2006)

Tzschach,, A.; Hoffmann, K.; Hoeltzenbein, M.; Bache, I.; Tommerup, N.; Bommer, C.; Körner, H.; Kalscheuer, V. M.; Ropers, H.-H.: Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris. Clinical Genetics 69 (2), pp. 189 - 193 (2006)

Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Van Zutven, L.; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.-P.; Chelly, J. et al.; van Bokhoven, H.; Gécz, J.; Dollfus, H.; Ropers, H.-H.; Schwartz, C. E.; de Cassia Stocco dos Santos, R.; Kalscheuer, V. M.; Hanauer, A.: Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Human Genetics 118 (5), pp. 578 - 590 (2006)

Hagens, O.; Minina, E.; Schweiger, S.; Ropers, H.-H.; Kalscheuer, V. M.: Characterization of FBX25, encoding a novel brain-expressed F-box protein. Biochimica et Biophysica Acta (BBA) - General Subjects 1760 (1), pp. 110 - 118 (2006)

Shoichet, S. A.; Duprez, L.; Hagens, O.; Waetzig, V.; Menzel, C.; Herdegen, T.; Schweiger, S.; Dan, B.; Vamos, E.; Ropers, H.-H. et al.; Kalscheuer, V. M.: Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. Human Genetics 118 (5), pp. 559 - 567 (2006)

Zahn, S.; Ehrbrecht, A.; Bosse, K.; Kalscheuer, V. M.; Propping, P.; Schwanitz, G.; Albrecht, B.; Engels, H.: Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1. American Journal of Medical Genetics: Part A 139 (1), pp. 19 - 24 (2005)

Shoichet, S. A.; Kunde, S.-A.; Viertel, P.; Schell-Apacik, C.; von Voss, H.; Tommerup, N.; Ropers, H.-H.; Kalscheuer, V. M.: Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Human Genetics 117 (6), pp. 536 - 544 (2005)

Borg, I.; Freude, K.; Kuebart, S.; Hoffmann, K.; Menzel, C.; Laccone, F.; Firth, H.; Ferguson-Smith, M. A.; Tommerup, N.; Ropers, H.-H. et al.; Sargan, D.; Kalscheuer, V. M.: Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. European Journal of Human Genetics 13 (8), pp. 921 - 927 (2005)