Publications of Hans-Hilger Ropers

Journal Article (203)

181.
Journal Article
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)
182.
Journal Article
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)
183.
Journal Article
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)
184.
Journal Article
van den Hurk, J. A. J. M.; van de Pol, D. J. R.; Wissinger, B.; van Driel, M. A.; Hoefsloot, L. H.; de Wijs, I. J.; van den Born, L. I.; Heckenlively, J. R.; Brunner, H. G.; Zrenner, E. et al.; Ropers, H.-H.; Cremers, F. P. M.: Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human Genetics 113 (3), pp. 268 - 275 (2003)
185.
Journal Article
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)
186.
Journal Article
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)
187.
Journal Article
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)
188.
Journal Article
Bienvenu, T.; Poirier, K.; Van Esch, H.; Hamel, B.; Moraine, C.; Fryns, J. P.; Ropers, H. H.; Beldjord, C.; Yntema, H. G.; Chelly, J.: Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. Journal of Medical Genetics 40 (5), pp. 357 - 359 (2003)
189.
Journal Article
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)
190.
Journal Article
Herr, A.; Meunier, D.; Muller, I.; Rump, A.; Fundele, R.; Ropers, H.-H.; Nuber, U. A.: Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis. Developmental Dynamics 226 (4), pp. 579 - 586 (2003)
191.
Journal Article
Wieczorek, G.; Steinhoff, C.; Schulz, R.; Scheller, M.; Vingron, M.; Ropers, H. H.; Nuber, U. A.: Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis. European Journal of Cell Biology 82 (Suppl. 53), p. 41 - 41 (2003)
192.
Journal Article
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)
193.
Journal Article
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)
194.
Journal Article
Roloff, T.-C.; Ropers, H.-H.; Nuber, U. A.: Comparative study of methyl-CpG-binding domain proteins. BMC Genomics 4, 1 (2003)
195.
Journal Article
Nino, M. I.; Nuber, U. A.; Robert, C.; Ropers, H. H.; King, W. A.: X-linked gene expression analysis in domestic cattle using human X chromosome-specific cDNA microarrays. Biology of Reproduction 68 (Suppl. 1), p. 277 - 277 (2003)
196.
Journal Article
Lenzner, S.; Prietz, S.; Feil, S.; Nuber, U. A.; Ropers, H. H.; Berger, W.: Global Gene Expression Analysis in a Mouse Model for Norrie Disease: Late Involvement of Photoreceptor Cells. Investigative Ophthalmology & Visual Science 43 (9), pp. 2825 - 2833 (2002)
197.
Journal Article
Grützner, F.; Roest Crollius, H.; Lütjens, G.; Jaillon, O.; Weissenbach, J.; Ropers, H. H.; Haaf, T.: Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes. Genome Research 12 (9), pp. 1316 - 1322 (2002)
198.
Journal Article
Borg, I.; Squire, M.; Menzel, C.; Stout, K.; Morgan, D.; Willatt, L.; O’Brien, P. C. M.; Ferguson-Smith, M. A.; Ropers, H. H.; Tommerup, N. et al.; Kalscheuer, V. M.; Sargan, D. R.: A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. Journal of Medical Genetics 39 (6), pp. 391 - 399 (2002)
199.
Journal Article
Tümer, Z.; Croucher, P. J. P.; Jensen, L. R.; Hampe, J.; Hansen, C.; Kalscheuer, V.; Ropers, H. H.; Tommerup, N.; Schreiber, S.: Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2). Gene 288 (1-2), pp. 179 - 185 (2002)
200.
Journal Article
Meloni, I.; Muscettola, M.; Raynaud, M.; Longo, I.; Bruttini, M.; Moizard, M.-P.; Gomot, M.; Chelly, J.; des Portes, V.; Fryns, J.-P. et al.; Ropers, H. H.; Magi, B.; Bellan, C.; Volpi, N.; Yntema, H. G.; Lewis, S. E.; Schaffer, J. E.; Renieri, A.: FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nature Genetics 30 (4), pp. 436 - 440 (2002)
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