Publikationen von Hans-Hilger Ropers

Ullmann, R.; Turner, G.; Kirchhoff, M.; Chen, W.; Tonge, B.; Rosenberg, C.; Field, M.; Vianna-Morgante, A. M.; Christie, L.; Krepischi-Santos, A. C. et al.; Banna, L.; Brereton, A. V.; Hill, A.; Bisgaard, A.-M.; Müller, I.; Hultschig, C.; Erdogan, F.; Wieczorek, G.; Ropers, H.-H.: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 28 (7) (2007)

Belloso, J. M.; Bache, I.; Guitart, M.; Caballin, M. R.; Halgren, C.; Kirchhoff, M.; Ropers, H.-H.; Tommerup, N.; Tümer, Z.: Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal og Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (6), S. 711 - 713 (2007)

Chen, W.; Jensen, L. R.; Gecz, J.; Fryns, J.-P.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.-H.; Kuss, A. W.: Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (3), S. 375 - 378 (2007)

Chen, W.; Jensen, L. R.; Gecz, J.; Fryns, J.-P.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.-H.; Kuss, A. W.: Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (3), S. 375 - 378 (2007)

Najmabadi, H.; Motazacker, M. M.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Chen, W.; Behjati, F.; Hadavi, V.; Nieh, S. E.; Abedini, S. S. et al.; Vazifehmand, R.; Firouzabadi, S. G.; Jamali, P.; Falah, M.; Seifati, S. M.; Grüters, A.; Lenzner, S.; Jensen, L. R.; Rüschendorf, F.; Kuss, A. W.; Ropers, H.-H.: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics 121 (1), S. 43 - 48 (2007)

Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), S. 172 - 178 (2007)

Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), S. 172 - 178 (2007)

Klopocki, E.; Schulze, H.; Strauß, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M. et al.; Habenicht, R.; König, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Mundlos, S.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 80 (2), S. 232 - 240 (2007)

Klopocki, E.; Schulze, H.; Strauß, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M. et al.; Habenicht, R.; König, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Mundlos, S.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 80 (2), S. 232 - 240 (2007)

Tzschach, A.; Menzel, C.; Erdogan, F.; Schubert, M.; Hoeltzenbein, M.; Barbi, G.; Petzenhauser, C.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics 143 A (4), S. 333 - 337 (2007)

de Brouwer, A. P.M.; Yntema, H. G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A. R.; de Vries, B. B. A.; van Bokhoven, H.; van Esch, H.; Frints, S. G. M.; Froyen, G. et al.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; des Portes, V.; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A. W.; Tzschach, A.; Jensen, L. R.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.; Hamel, B. C.J.: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 28 (2), S. 207 - 208 (2007)

Kalscheuer, V. M.; FitzPatrick, D.; Tommerup, N.; Bugge, M.; Niebuhr, E.; Neumann, L. M.; Tzschach, A.; Shoichet, S. A.; Menzel, C.; Erdogan, F. et al.; Arkesteijn, G.; Ropers, H.-H.; Ullmann, R.: Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics 121 (3-4), S. 501 - 509 (2007)

Jensen, L. R.; Lenzner, S.; Mose, B.; Freude, K.; Tzschach, A.; Chen, W.; Fryns, J.-P.; Chelly, J.; Turner, G.; Moraine, C. et al.; Hamel, B.; Ropers, H.-H.; Kuss, A. w.: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (1), S. 68 - 75 (2007)

Jensen, L. R.; Lenzner, S.; Mose, B.; Freude, K.; Tzschach, A.; Chen, W.; Fryns, J.-P.; Chelly, J.; Turner, G.; Moraine, C. et al.; Hamel, B.; Ropers, H.-H.; Kuss, A. w.: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (1), S. 68 - 75 (2007)

Tzschach, A.; Ropers, H.-H.: Genetik der mentalen Retardierung. Deutsches Ärzteblatt: Ärztliche Mitteilungen/Ausgabe A, Praxis-Ausgabe: Niedergelassene Ärzte 20 A, S. 1400 - 1405 (2007)

Klopocki, E.; Neumann, L. M.; Tönnies, H.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 14 (121), S. 1274 - 1279 (2006)

Klopocki, E.; Neumann, L. M.; Tönnies, H.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 14 (121), S. 1274 - 1279 (2006)

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), S. 247 - 253 (2006)

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), S. 247 - 253 (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)