Publikationen von Hans-Hilger Ropers

Giannandrea, M.; Bianchi, V.; Mignogna, M. L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L. et al.; Ropers, H.-H.; Tzschach, A.; Kalscheuer, V. M.; Oehl-Jaschkowitz, B.; Schwartz, C. E.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; de Brouwer, A. P.M.; Toniolo, D.; D'Adamo, P.: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 86 (2), S. 185 - 195 (2010)

Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A. C.; Oudakker, A. R.; Kjaergaard, S.; Vianna-Morgante, A. M.; Kleefstra, T.; Ruiter, M.; Jehee, F. S. et al.; Ullmann, R.; Schwartz, C. E.; Stratton, M.; Raymond, F. L.; Veltman, J. A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J. H.M.; Hehir-Kwa, J. Y.; Froyen, G.; Chelly, J.; Ropers, H.-H.; Moraine, C.; Gècz, J.; Knijnenburg, J.; Kant, S. G.; Hamel, B. C.J.; Rosenberg, C.; van Bokhoven, H.; de Brouwer, A. P.M.: Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A. 152A (3), S. 638 - 645 (2010)

Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 3, S. 2 - 2 (2010)

Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C. Pathogenetics 2 (3), S. 2 - 2 (2010)

Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Döring, A.; Hu, Y.; Kang, H.; Tzschach, A. et al.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; van Ravenswaaij-Arts, C. M. A.; Kleefstra, T.; Kalscheuer, V. M.; Ropers, H.-H.: Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)

Musante, L.; Kunde, S.-A.; Sulistio, T. O.; Frints, S. G.M.; Schwartz, C. E.; Martínez, F.; Romano, C.; Ropers, H.-H.; Kalscheuer, V. M.; Fischer, U. et al.; Grimme, A.: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation 31 (1), S. 90 - 98 (2010)

Ropers, H.-H.: Single gene disorders come into focus – again. Dialogues. Dialogues in Clinical Neuroscience 12 (1), S. 95 - 102 (2010)

Mir, A.; Kaufman, L.; Noor, A.; Motazacker, M. M.; Jamil, T.; Azam, M.; Kahrizi, K.; Rafiq, M. A.; Weksberg, R.; Nasr, T. et al.; Naeem, F.; Tzschach, A.; Kuss, A. W.; Ishak, G. E.; Doherty, D.; Ropers, H.-H.; Barkovich, A. J.; Najmabadi, H.; Ayub, M.; Vincent, J. B.: Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation. American Journal of Human Genetics 85 (6), S. 909 - 915 (2009)

Bashiardes, S.; Kousoulidou, L.; van Bokhoven, H.; Ropers, H.-H.; Chelly, J.; Moraine, C.; de Brouwer, A. P. M.; van Esch, H.; Froyen, G.; Patsalis, P. C.: A new chromosome X Exon-specific microarray platform for screening of patients with X-linked disorders. Journal of Molecular Diagnostics 11 (6), S. 562 - 568 (2009)

Kariminejad, A.; Kariminejad, R.; Tzschach, A.; Ullmann, R.; Ahmed, A.; Asghari-Roodsari, A.; Salehpour, S.; Afroozan, F.; Ropers, H.-H.; Kariminejad, M. H.: Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics Part A 149 (7), S. 1544 - 1549 (2009)

Shoichet, S. A.; Waibel, S.; Endruhn, S.; Sperfeld, A. D.; Vorwerk, B.; Mümlller, I.; Erdogan, F.; Ludolph, A. C.; Ropers, H.-H.; Ullmann, R.: Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic Lateral Sclerosis 10 (3), S. 162 - 169 (2009)

Tzschach, A.; Ramel, C.; Kron, A.; Seipel, B.; Wüster, C.; Cordes, U.; Liehr, T.; Hoeltzenbein, M.; Menzel, C.; Ropers, H.-H. et al.; Ullmann, R.; Kalscheuer, V.; Decker, J.; Steinberger, D.: Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology 32 (3), S. 226 - 230 (2009)

Tarpey, P. S.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S.; Hardy, C.; O'Meara, S.; Latimer, C.; Dicks, E.; Menzies, A. et al.; Stephens, P.; Blow, M.; Greenman, C.; Xue, Y.; Tyler-Smith, C.; Thompson, D.; Gray, K.; Andrews, J.; Barthorpe, S.; Buck, G.; Cole, J.; Dunmore, R.; Jones, D.; Maddison, M.; Mironenko, T.; Turner, R.; Turrell, K.; Varian, J.; West, S.; Widaa, S.; Wray, P.; Teague, J.; Butler, A.; Jenkinson, A.; Jia, M.; Richardson, D.; Shepherd, R.; Wooster, R.; Jia, M.; Richardson, D.; Shepherd, R.; Wooster, R.; Tejada, M. I.; Martinez, F.; Carvill, G.; Goliath, R.; de Brouwer, A. P. M.; van Bokhoven, H.; Van Esch, H.; Chelly, J.; Raynaud, M.; Ropers, H.-H.; Abidi, F. E.; Srivastava, A. K.; Cox, J.; Luo, Y.; Mallya, U.; Moon, J.; Parnau, J.; Mohammed, S.; Tolmie, J. L.; Shoubridge, C.; Corbett, M.; Gardner, A.; Haan, E.; Rujirabanjerd, S.; Shaw, M.; Vandeleur, L.; Fullston, T.; Easton, D. F.; Boyle, J.; Partington, M.; Hackett, A.; Field, M.; Skinner, C.; Stevenson, R. E.; Bobrow, M.; Turner, G.; Schwartz, C. E.; Gecz, J.; Raymond, F. L.; Futreal, P. A.; Stratton, M. R.: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Narure Genetics 41 (5), S. 535 - 543 (2009)

Pouya, A. R.; Abedini, S. S.; Mansoorian, N.; Behjati, F.; Nikzat, N.; Mohseni, M.; Nieh, S. E.; Moheb, L. A.; Darvish, H.; Monajemi, G. B. et al.; Banihashemi, S.; Kahrizi, K.; Ropers, H.-H.; Najmabadi, H.: Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. European Journal of Medical Genetics 52 (4), S. 170 - 173 (2009)

Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L. S.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J. P.; Hamel, B.; Chelly, J. et al.; Ropers, H.-H.; Ronce, N.; Blesson, S.; Moraine, C.; Gécz, J.; Raynaud, M.: Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Molecular Psychiatry 2009, S. 1 - 10 (2009)

Kahrizi, K.; Najmabadi, H.; Kariminejad, R.; Jamali, P.; Malekpour, M.; Garshasbi, M.; Ropers, H.-H.; Kuss, A. W.; Tzschach, A.: An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. European Journal of Human Genetics 17 (1), S. 125 - 128 (2009)

Kalscheuer, V. M.; Musante, L.; Fang, C.; Hoffmann, K.; Fuchs, C.; Carta, E.; Deas, E.; Venkateswarlu, K.; Menzel, C.; Ullmann, R. et al.; Tommerup, N.; Dalprà, L.; Tzschach, A.; Selicorni, A.; Lüscher, B.; Ropers, H.-H.; Harvey, K.; Harvey, R. J.: A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 30 (1), S. 61 - 68 (2009)

Ropers, H.-H.: Genetics of intellectual disability. Current Opinion in Genetics & Development 18 (3), S. 241 - 250 (2008)

Erdogan, F.; Larsen, L. A.; Zhang, L.; Tümer, Z.; Tommerup, N.; Chen, W.; Jacobsen, J. R.; Schubert, M.; Jurkatis, J.; Tzschach, A. et al.; Ropers, H. H.; Ullmann, R.: High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics 11, S. 705 - 709 (2008)

Klopocki, E.; Graul-Neumann, L. M.; Grieben, U.; Tönnies, H.; Ropers, H.-H.; Horn, D.; Mundlos, S.; Ullmann, R.: A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 167 (8), S. 903 - 908 (2008)