Publikationen von Hans-Hilger Ropers

Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H.-H.; Querfeld, U.; Ullmann, R.: A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 70 (9), S. 1656 - 1660 (2006)

Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H.-H.; Querfeld, U.; Ullmann, R.: A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 70 (9), S. 1656 - 1660 (2006)

Cingoz, S.; Bisgaard, A.M.; Bache, I.; Bryndorf, T.; Kirchoff, M.; Petersen, W.; Ropers, H.-H.; Maas, N.; Van Buggenhout, G.; Tommerup, N. et al.; Tümer, Z.: 4q35 deletion and 10p15 duplication associated with immunodeficiency. American Journal of Medical Genetics Part A 140 (20), S. 2231 - 2235 (2006)

Tzschach, A.; Hoeltzenbein, M.; Hoffmann, K.; Menzel, C.; Beyer, A.; Ocker, V.; Wurster, G.; Raynaud, M.; Ropers, H.-H.; Kalscheuer, V. M.: Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 14 (12), S. 1317 - 1320 (2006)

Budny, B.; Chen, W.; Omran, H.; Fliegauf, M.; Tzschach, A.; Wisniewska, M.; Jensen, L. R.; Raynaud, M.; Shoichet, S. A.; Badura, M. et al.; Lenzner, S.; Latos-Bielenska, A.; Ropers, H.-H.: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics 120 (2), S. 171 - 178 (2006)

Ropers, H.-H.: X-linked mental retardation: many genes for a complex disorder. Opinion in Genetics & Development 16 (3), S. 260 - 269 (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), S. 1108 - 1110 (2006)

Klopocki, E.; Fiebig, B.; Robinson, P. N.; Tönnies, H.; Erdogan, F.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. American Journal of Medical Genetics Part A 140A (8), S. 873 - 877 (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), S. 878 - 883 (2006)

Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.-P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.-H. et al.; Kuss, A.; Jensen, L. R.: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 27 (4), S. 389 - 389 (2006)

Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.-P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.-H. et al.; Kuss, A.; Jensen, L. R.: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 27 (4), S. 389 - 389 (2006)

Yan, K.-L.; Zhang, X.-J.; Wang, Z.-M.; Yang, S.; Zhang, G.-L.; Wang, J.; Xiao, F.-L.; Gao, M.; Cui, Y.; Chen, J.-J. et al.; Fan, X.; Sun, L.-D.; Xia, Q.; Zhang, K.-Y.; Niu, Z.-M.; Xu, S.-J.; Tzschach, A.; Ropers, H.-H.; Huang, W.; Liu, J.-J.: A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris. The Journal of Investigative Dermatology: Official Journal of the Society for Investigative Dermatology and the European Society for Dermatological Research 126 (5), S. 1003 - 1005 (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), S. 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), S. 111 - 118 (2006)

Garshasbi, M.; Motazacker, M. M.; Kahrizi, K.; Behjati, F.; Abedini, S. S.; Nieh, S. E.; Firouzabadi, S. G.; Becker, C.; Rüschendorf, F.; Nürnberg, P. et al.; Tzschach, A.; Vazifehmand, R.; Erdogan, F.; Ullmann, R.; Lenzner, S.; Kuss, A. W.; Ropers, H.-H.; Najmabadi, H.: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics 118 (6), S. 708 - 715 (2006)

Lugtenberg, D.; Yntema, H. G.; Banning, M. J. G.; Oudakker, A. R.; Firth, H. V.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.-P.; Ropers, H.-H. et al.; Chelly, J.; Moraine, C.; Gécz, J.; van Reeuwijk, J.; Nabuurs, S. B.; de Vries, B. B. A.; Hamel, B. C. J.; de Brouwer, A. P. M.; van Bokhoven, H.: ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation. American Journal of Human Genetics: : AJHG / American Society of Human Genetics 78 (2), S. 265 - 278 (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), S. 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), S. 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), S. 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), S. 559 - 567 (2006)