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Journal Article (80)

41.
Journal Article
Lugtenberg, D.; Kleefstra, T.; Oudakker, A. R.; Nillesen, W. M.; Yntema, H. G.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J. et al.; Goizet, C.; Lacombe, D.; Pedespan, J.-M.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M. D.; Green, A.; van Kogelenberg, M.; Van Esch, H.; Gecz, J.; Hamel, B. C. J.; van Bokhoven, H.; de Brouwer, A. P. M.: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. European Journal of Human Genetics 17 (4), pp. 444 - 453 (2009)
42.
Journal Article
Neumann, T. E.; Allanson, J.; Kavamura, I.; Kerr, B.; Neri, G.; Noonan, J.; Cordeddu, V.; Gibson, K.; Tzschach, A.; Krüger, G. et al.; Hoeltzenbein, M.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Sasiadek, M. M.; Musante, L.; Laurie, R.; Peters, H.; Tartaglia, M.; Zenker, M.; Kalscheuer, V. M.: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics 17 (4), pp. 420 - 425 (2009)
43.
Journal Article
Tzschach, A.; Graul-Neumann, L. M.; Konrat, K.; Richter, R.; Ebert, G.; Ullmann, R.; Neitzel, H.: Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature. American Journal of Medical Genetics Part A 149 (2), pp. 242 - 245 (2009)
44.
Journal Article
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), pp. 125 - 128 (2009)
45.
Journal Article
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), pp. 61 - 68 (2009)
46.
Journal Article
Seifert, W.; Holder-Espinasse, M.; Kühnisch, J.; Kahrizi, K.; Tzschach, A.; Garshasbi, M.; Najmabadi, H.; Kuss, A. W.; Kress, W.; Laureys, G. et al.; Loeys, B.; Brilstra, E.; Mancini, G. M.S.; Dollfus, H.; Dahan, K.; Apse, K.; Hennies, H. C.; Horn, D.: Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1. Human Mutation 30 (2), pp. E404 - E420 (2008)
47.
Journal Article
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, pp. 705 - 709 (2008)
48.
Journal Article
Tzschach, A.; Bozorgmehr, B.; Hadavi, V.; Kahrizi, K.; Garshasbi, M.; Motazacker, M. M.; Ropers, H.-H.; Kuss, A.; Najmabad, H.: Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 159 (3), pp. 748 - 751 (2008)
49.
Journal Article
Tzschach, A.; Tinschert, S.; Kaminsky, E.; Lusga, E.; Mundlos, S.; Graul-Neumann, L. M.: Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 146A (14), pp. 1859 - 1864 (2008)
50.
Journal Article
Tzschach, A.; Tinschert, S.; Kaminsky, E.; Lusga, E.; Mundlos, S.; Graul-Neumann, L. M.: Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 146A (14), pp. 1859 - 1864 (2008)
51.
Journal Article
Garshasbi, M.; Hadavi, V.; Habibi, H.; Kahrizi, K.; Kariminejad, R.; Behjati, F.; Tzschach, A.; Najmabadi, H.; Ropers, H.-H.; Kuss, A. W.: A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. The American Journal of Human Genetics 82 (5), pp. 1158 - 1164 (2008)
52.
Journal Article
Frints, S. G. M.; Lenzner, S.; Bauters, M.; Jensen, L. R.; Van Esch, H.; des Portes, V.; Moog, U.; Macville, M. V. E.; van Roozendaal, K.; Schrander-Stumpel, C. T. R. M. et al.; Tzschach, A.; Marynen, P.; Fryns, J.-P.; Hame, B.; van Bokhoven, H.; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H. H.; Froyen, G.; Kuss, A. W.: MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. European Journal of Human Genetics 16 (9), pp. 1029 - 1037 (2008)
53.
Journal Article
Chen, W.; Kalscheuer, V.; Tzschach, A.; Menzel, C.; Ullmann, R.; Schulz, M. H.; Erdogan, F.; Na, L.; Kijas, Z.; Arkesteijn, G. et al.; Pajares, I. L.; Goetz-Sothmann, M.; Heinrich, U.; Rost, I.; Dufke, A.; Grasshoff, U.; Glaeser, B.; Vingron, M.; Ropers, H. H.: Mapping translocation breakpoints by next-generation sequencing. Genome Research 18 (7), pp. 1143 - 1149 (2008)
54.
Journal Article
Tzschach, A.; Kelbova, C.; Weidensee, S.; Peters, H.; Ropers, H.-H.; Ullmann, R.; Erdogan, F.; Jurkatis, J.; Menzel, C.; Kalscheuer, V. M. et al.; Demuth, S.: Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 29 (1), pp. 37 - 40 (2008)
55.
Journal Article
Walczak-Sztulpa, J.; Wisniewska, M.; Latos-Bielenska, A.; Linné, M.; Kelbova, C.; Belitz, B.; Pfeiffer, L.; Kalscheuer, V. M.; Erdogan, F.; Kuss, A. W. et al.; Ropers, H.-H.; Ullmann, R.; Tzschach, A.: Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 146 (3), pp. 337 - 342 (2008)
56.
Journal Article
Moheb, L. A.; Tzschach, A.; Garshasbi, M.; Kahrizi, K.; Darvish, H.; Heshmati, Y.; Kordi, A.; Najmabadi, H.; Ropers, H.-H.; Kuss, A. W.: Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. European Journal of Human Genetics 16, pp. 270 - 273 (2008)
57.
Journal Article
Tzschach, A.; Chen, W.; Erdogan, F.; Hoeller, A.; Ropers, H.-H.; Castellan, C.; Ullmann, R.; Schinzel, A.: Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. American Journal of Medical Genetics Part A 146A (2), pp. 197 - 203 (2008)
58.
Journal Article
Motazacker, M. M.; Rost, B. R.; Hucho, T.; Garshasb, M.; Kahriz, K.; Ullmann, R.; Abedini, S. S.; Nieh, S. E.; Amini, S. H.; Goswami, C. et al.; Tzschach, A.; Jensen, L. R.; Schmitz, D.; Ropers, H.-H.; Najmabadi, H.; Kuss, A. W.: A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. The American Journal of Human Genetics: AJHG 81 (4), pp. 792 - 798 (2007)
59.
Journal Article
Scherthan, H.; Abend, M.; Müller, K.; Beine, C.; Braselmann, H.; Zitzelsberger, H.; Köhn, F. M.; Pillekamp, H.; Schiener, R.; Das, O. et al.; Peter, R. U.; Herzog, G.; Tzschach, A.; Doerr, H.; Fliedner, T. M.; Meineke, V.: Radiation induced late effects in two affected individuals of the Lilo radiation accident. Radiation Research 167 (5), pp. 615 - 623 (2007)
60.
Journal Article
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), pp. 43 - 48 (2007)
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