Publikationen von R. Ullmann

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. Eur J Hum Genet 19 (1), S. 115 - 7 (2011)

Kariminejad, R.; Lind-Thomsen, A.; Tumer, Z.; Erdogan, F.; Ropers, H. H.; Tommerup, N.; Ullmann, R.; Moller, R. S.: High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 32 (12), S. 1427 - 35 (2011)

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.; 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 novel loci and several mutation hotspots. Hum Genet 129 (2), S. 141 - 8 (2011)

Lesch, K. P.; Selch, S.; Renner, T. J.; Jacob, C.; Nguyen, T. T.; Hahn, T.; Romanos, M.; Walitza, S.; Shoichet, S.; Dempfle, A. et al.; Heine, M.; Boreatti-Hummer, A.; Romanos, J.; Gross-Lesch, S.; Zerlaut, H.; Wultsch, T.; Heinzel, S.; Fassnacht, M.; Fallgatter, A.; Allolio, B.; Schafer, H.; Warnke, A.; Reif, A.; Ropers, H. H.; Ullmann, R.: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry 16 (5), S. 491 - 503 (2011)

Mitter, D.; Ullmann, R.; Muradyan, A.; Klein-Hitpass, L.; Kanber, D.; Ounap, K.; Kaulisch, M.; Lohmann, D.: Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet 19 (9), S. 947 - 58 (2011)

Muradyan, A.; Gilbertz, K.; Stabentheiner, S.; Klause, S.; Madle, H.; Meineke, V.; Ullmann, R.; Scherthan, H.: Acute high-dose X-radiation-induced genomic changes in A549 cells. Radiat Res 175 (6), S. 700 - 7 (2011)

Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), S. 57 - 63 (2011)

Rafiq, M. A.; Kuss, A. W.; Puettmann, L.; Noor, A.; Ramiah, A.; Ali, G.; Hu, H.; Kerio, N. A.; Xiang, Y.; Garshasbi, M. et al.; Khan, M. A.; Ishak, G. E.; Weksberg, R.; Ullmann, R.; Tzschach, A.; Kahrizi, K.; Mahmood, K.; Naeem, F.; Ayub, M.; Moremen, K. W.; Vincent, J. B.; Ropers, H. H.; Ansar, M.; Najmabadi, H.: Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 89 (1), S. 176 - 82 (2011)

Ropers, F.; Derivery, E.; Hu, H.; Garshasbi, M.; Karbasiyan, M.; Herold, M.; Nurnberg, G.; Ullmann, R.; Gautreau, A.; Sperling, K. et al.; Varon, R.; Rajab, A.: Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 20 (13), S. 2585 - 90 (2011)

Stacher, E.; Boldt, V.; Leibl, S.; Halbwedl, I.; Popper, H. H.; Ullmann, R.; Tavassoli, F. A.; Moinfar, F.: Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast. Histopathology 59 (3), S. 549 - 55 (2011)

Steininger, A.; Mobs, M.; Ullmann, R.; Kochert, K.; Kreher, S.; Lamprecht, B.; Anagnostopoulos, I.; Hummel, M.; Richter, J.; Beyer, M. et al.; Janz, M.; Klemke, C. D.; Stein, H.; Dorken, B.; Sterry, W.; Schrock, E.; Mathas, S.; Assaf, C.: Genomic loss of the putative tumor suppressor gene E2A in human lymphoma. J Exp Med 208 (8), S. 1585 - 93 (2011)

Tzschach, A.; Ullmann, R.; Ahmed, A.; Martin, T.; Weber, G.; Decker-Schwering, O.; Pauly, F.; Shamdeen, M. G.; Reith, W.; Oehl-Jaschkowitz, B.: Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Am J Med Genet A 155A (11), S. 2771 - 4 (2011)

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), S. 141 - 148 (2010)

Kim, H.-G.; Ahn, J.-W.; Kurth, I.; Ullmann, R.; Kim, H.-T.; Kulharya, A.; Ha, K.-S.; Itokawa, Y.; Meliciani, I.; Wolfgang Wenzel, W. W. et al.; Lee, D.; Rosenberger, G.; Ozata, M.; Bick, D. P.; Sherins, R. J.; Nagase, T.; Tekin, M.; Kim, S.-H.; Kim, C.-H.; Ropers, H.-H.; Gusella, J. F.; Kalscheuer, V. M.; Choi, C. Y.; Layman, L. C.: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics 87 (4), S. 465 - 479 (2010)

Buonincontri, R.; Bache, I.; Silahtaroglu, A.; Elbro, C.; Veber Nielsen, A.-M.; Ullmann, R.; Arkesteijn, G.; Tommerup, N.: Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Learning Disabilities, S. 125 - 133 (2010)

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), S. 2651 - 2655 (2010)

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, S. 115 - 117 (2010)

Storlazzi, C. T.; Lonoce, A.; Guastadisegni, M. C.; Trombetta, D.; D'Addabbo, P.; Daniele, G.; L'Abbate, A.; Macchia, G.; Surace, C.; Kok, K. et al.; Ullmann, R.; Purgato, S.; Palumbo, O.; Carella, M.; Ambros, P. F.; Rocchi, M.: Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure. Genome Research 20 (9), S. 1198 - 1206 (2010)

Thorwarth, A.; Mueller, I.; Biebermann, H.; Ropers, H.-H.; Grueters, A.; Krude, H.; Ullmann, R.: Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. The Journal of Clinical Endocrinology & Metabolism 95 (7), S. 3446 - 3452 (2010)

Semerci, C. N.; Cinbis, M.; Ullmann, R.; Steininger, A.; Bahce, M.; Yagci, B.; Ozden, S.; Sabir, N.; Gumus, D.; Tepeli, E. et al.; Arteaga, J.; Mutchinick, O. M.: Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. American Journal of Medical Genetics Part A 152A (7), S. 1724 - 1729 (2010)