Search results

Journal Article (80)

61.
Journal Article
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), pp. 172 - 178 (2007)
62.
Journal Article
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), pp. 172 - 178 (2007)
63.
Journal Article
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), pp. 333 - 337 (2007)
64.
Journal Article
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), pp. 207 - 208 (2007)
65.
Journal Article
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), pp. 501 - 509 (2007)
66.
Journal Article
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), pp. 68 - 75 (2007)
67.
Journal Article
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), pp. 68 - 75 (2007)
68.
Journal Article
Tzschach, A.; Ropers, H.-H.: Genetik der mentalen Retardierung. Deutsches Ärzteblatt: Ärztliche Mitteilungen/Ausgabe A, Praxis-Ausgabe: Niedergelassene Ärzte 20 A, pp. 1400 - 1405 (2007)
69.
Journal Article
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), pp. 1317 - 1320 (2006)
70.
Journal Article
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), pp. 171 - 178 (2006)
71.
Journal Article
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), pp. 1108 - 1110 (2006)
72.
Journal Article
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), p. 389 - 389 (2006)
73.
Journal Article
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), p. 389 - 389 (2006)
74.
Journal Article
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), pp. 1003 - 1005 (2006)
75.
Journal Article
Tzschach, A.; Krause-Plonka, I.; Menzel, C.; Kalscheuer, V. M.; Toennies, H.; Scherthan, H.; Knoblauch, A.; Radke, M.; Ropes, H.-H.; Hoeltzenbein, M.: Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics 140 (5), pp. 496 - 502 (2006)
76.
Journal Article
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), pp. 708 - 715 (2006)
77.
Journal Article
Tzschach, A.; Ropers, H.-H.: X-chromosomale Retardierung. Medizinische Genetik: : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V. 2, pp. 187 - 193 (2006)
78.
Journal Article
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), pp. 227 - 236 (2005)
79.
Journal Article
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), pp. 227 - 236 (2005)
80.
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)
Go to Editor View