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Journal Article (80)

21.
Journal Article
Kuss, A. W.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Behjati, F.; Darvish, H.; Abbasi-Moheb, L.; Puettmann, L.; Zecha, A.; Weißmann, R. et al.; Hu, H.; Mohseni, M.; Abedini, S. S.; Rajab, A.; Hertzberg, C.; Wieczorek, D.; Ullmann, R.; Saghar Ghasemi-Firouzabadi, S.; Banihashemi, S.; Arzhangi, S.; Hadavi, V.; Bahrami-Monajemi, G.; Kasiri, M.; Falah, M.; Nikuei, P.; Dehghan, A.; Sobhani, M.; Jamali, P.; Ropers, H.-H.; Najmabadi, H.: Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics 129 (2), pp. 141 - 148 (2010)
22.
Journal Article
Darvish, H. ..; Nieh, S. E.; Monajemi, G. B.; Mohseni, M.; Ghasemi-Firouzabadi, S.; Abedini, S. S.; Bahman, I.; P Jamali, P.; Azimi, S.; Mojahedi, F. et al.; Dehghan, A.; Shafeghati, Y.; Jankhah, A.; Falah, M.; Soltani Banavandi, M. J.; Ghani-Kakhi, M.; Garshasbi, M.; Rakhshani, F.; Naghavi, A.; Tzschach, A.; Neitzel, H.; Ropers, H.-H.; Kuss, A. W.; Behjati, F.; Kahrizi, K.; Najmabadi, H.: A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics. 47 (12), pp. 823 - 828 (2010)
23.
Journal Article
Kariminejad, A.; Kariminejad, R.; Tzschach, A.; Najafi, H.; Ahmed, A.; Ullmann, R.; Ropers, H.-H.; Kariminejad, M. H.: 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. American Journal of Medical Genetics. Part A. 152A (10), pp. 2651 - 2655 (2010)
24.
Journal Article
Kahrizi, K.; Hu, C. H.; Garshasbi, M.; Abedini, S. S.; Ghadami, S.; Kariminejad, R.; Ullmann, R.; Chen, W.; Ropers, H.-H.; Kuss, A. W. et al.; Najmabadi, H.; Tzschach, A.: Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics 19, pp. 115 - 117 (2010)
25.
Journal Article
Shafeghati, Y.; Kahrizi, K.; Najmabadi, H.; Kuss, A. W.; Ropers, H.-H.; Tzschach, A.: Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. European Journal of Pediatrics 169 (12), pp. 1535 - 1539 (2010)
26.
Journal Article
Walczak-Sztulpa, J.; Eggenschwiler, J.; Osborn, D.; Brown, D. A.; Emma, F.; Klingenberg, C.; Hennekam, R. C.; Torre, G.; Garshasbi, M.; Tzschach, A. et al.; Szczepanska, M.; Krawczynski, M.; Zachwieja, J.; Zwolinska, D.; Beales, P. L.; Ropers, H.-H.; Latos-Bielenska, A.; Kuss, A. W.: Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American Journal of Human Genetics 86 (6), pp. 949 - 956 (2010)
27.
Journal Article
Hu, H.; Wrogemann, K.; Kalscheuer, V. M.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.-H.; Chen, W.: Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 3 (1-4), p. 83 - 83 (2010)
28.
Journal Article
Tzschach, A.; Menzel, C.; Erdogan, F.; Istifli, E. S.; Rieger, M.; Ovens-Raeder, A.; Macke, A.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 152A (4), pp. 1008 - 1012 (2010)
29.
Journal Article
Budny, B.; Badura-Stronka, M.; Materna-Kiryluk, A.; Tzschach, A.; Raynaud, M.; Latos-Bielenska, A.; Ropers, H.-H.: Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clinical Genetics: an International Journal of Genetics in Medicine 77 (6), pp. 541 - 551 (2010)
30.
Journal Article
Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)
31.
Journal Article
Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)
32.
Journal Article
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), pp. 185 - 195 (2010)
33.
Journal Article
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, p. 2 - 2 (2010)
34.
Journal Article
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), p. 2 - 2 (2010)
35.
Journal Article
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)
36.
Journal Article
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), pp. 909 - 915 (2009)
37.
Journal Article
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), pp. 1544 - 1549 (2009)
38.
Journal Article
Tzschach, A.: Genetik der nichtsyndromalen geistigen Behinderung. Medizinische Genetik 21 (2), pp. 231 - 236 (2009)
39.
Journal Article
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), pp. 226 - 230 (2009)
40.
Journal Article
Graul-Neumann, L. M.; Stieler, K. M.; Blume-Peytavi, U.; Tzschach, A.: Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). American Journal of Medical Genetics Part A 149 (4), pp. 746 - 750 (2009)
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