Publikationen von Hans-Hilger Ropers

Tzschach, A.; Ropers, H.-H.: X-chromosomale Retardierung. Medizinische Genetik: : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V. 2, S. 187 - 193 (2006)

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), S. 536 - 544 (2005)

Nuber, U. A.; Kriaucionis, S.; Roloff, T. C.; Guy, J.; Selfridge, J.; Steinhoff, C.; Schulz, R.; Lipkowitz, B.; Ropers, H. H.; Holmes, M. C. et al.; Bird, A.: Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Human Molecular Genetics 14 (15), S. 2247 - 2256 (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), S. 921 - 927 (2005)

Chen, W.; Erdogan, F.; Ropers, H.-H.; Lenzner, S.; Ullmann, R.: : CGHPRO – a comprehensive data analysis tool for array CGH. BMC Bioinformatics 6 (1), S. 1471 - 2105 (2005)

Poirier, K.; Francis, F.; Hamel, B.; Moraine, C.; Fryns, J. P.; Ropers, H.-H.; Chelly, J.; Bienvenu, T.: Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males. Druckausgaben (und Verfilmungen) 13 (5), S. 523 - 524 (2005)

Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), S. 227 - 236 (2005)

Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), S. 227 - 236 (2005)

Nino-Soto, M.I.; Nuber, U. A.; Basrur, P.K.; Ropers, H.-H.; King, W.A.: Differences in the pattern of X-linked gene expression between fetal bovine muscle and fibroblast cultures derived from the same muscle biopsies. Cytogenetic and Genome Research 111 (1), S. 57 - 64 (2005)

Ropers, H.-H.; Hamel, B. C. J.: X-linked mental retardation. Nature Reviews Genetics 6 (1), S. 46 - 57 (2005)

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), S. 1149 - 1154 (2004)

Salomons, G. S.; Ropers, H.-H.: Reply to Mandel. The American Journal of Human Genetics 75 (4), S. 731 - 732 (2004)

Jazaeri, A. A.; Chandramouli, G. V.; Aprelikova, O.; Nuber, U. A.; Sotiriou, C.; Liu, E. T.; Ropers, H.-H.; Yee, C. J.; Boyd, J.; Barrett, J. C.: BRCA1-mediated repression of select X chromosome genes. Journal of Translational Medicine 2, S. 32 - 32 (2004)

Gurok, U.; Steinhoff, C.; Lipkowitz, B.; Ropers, H.-H.; Scharff, C.; Nuber, U. A.: Gene expression changes in the course of neural progenitor cell differentiation. Journal of Neuroscience 24 (26), S. 5982 - 6002 (2004)

Shi, W.; van den Hurk, J. A. J. M.; Alamo-Bethencourt, V.; Mayer, W.; Winkens, H. J.; Ropers, H.-H.; Cremers, F. P. M.; Fundele, R.: Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Developmental Biology 272 (1), S. 53 - 65 (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), S. 305 - 309 (2004)

Rosenberg, E. H.; Almeida, L. S.; Kleefstra, T.; deGrauw, R. S.; Yntema, H. G.; Bahi, N.; Moraine, C.; Ropers, H.-H.; Fryns, J.-P.; deGrauw, T. J. et al.; Jakobs, C.; Salomons, G. S.: High prevalence of SLC6A8 deficiency in X-linked mental retardation. American Journal of Human Genetics 75, S. 97 - 105 (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, S. 119 - 127 (2004)

Singh, U.; Fohn, L. E.; Wakayama, T.; Ohgane, J.; Steinhoff, C.; Lipkowitz, B.; Schulz, R.; Orth, A.; Ropers, H.-H.; Behringer, R. R. et al.; Tanaka, S.; Shiota, K.; Yanagimachi, R.; Nuber, U. A.; Fundele, R.: Different molecular mechanisms underlie placental overgrowth phenotypes caused by interspecies hybridization, cloning, and Esx1 mutation. Developmental Dynamics 230 (1), S. 149 - 164 (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, S. e25 - e25 (2004)