Journal Article (452)

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Ott, C.-E.; Bauer, S.; Manke, T.; Ahrens, S.; Rödelsperger, C.; Grünhagen, J.; Kornak, U.; Duda, G.; Mundlos, S.; Robinson, P. N.: Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 24 (7), pp. 1247 - 1262 (2009)
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Raile, K.; Klopocki, E.; Holder, M.; Wessel, T.; Galler, A.; Deiss, D.; Müller, D.; Riebel, T.; Horn, D.; Maringa, M. et al.; Weber, J.; Ullmann, R.; Grüters, A.: Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 94 (7), pp. 2658 - 2664 (2009)
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Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D. J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E. C.; Abuelo, D. N. et al.; Adamowicz, M.; Al-Aama, J.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M. T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Türkmen, S.; Tuysuz, B.; Yüksel-Konuk, B.; Mundlos, S.; Van Maldergem, L.; Wevers, R. A.; Urban, Z.: Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 18 (12), pp. 2149 - 2165 (2009)
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Schinke, T.; Schilling, A. F.; Baranowsky, A.; Seitz, S.; Marshall, R. P.; Linn, T.; Blaeker, M.; Huebner, A. K.; Schulz, A.; Simon, R. et al.; Gebauer, M.; Priemel, M.; Kornak, U.; Perkovic, S.; Barvencik, F.; Beil, F. T.; Del Fattore, A.; Frattini, A.; Streichert, T.; Pueschel, K.; Villa, A.; Debatin, K.-M.; Rueger, J. M.; Teti, A.; Zustin, J.; Sauter, G.; Amling, M.: Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine 15, pp. 674 - 681 (2009)
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Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, p. e1000487 - e1000487 (2009)
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Jürgens, A. S.; Kolanczyk, M.; Moebest, D. C. C.; Zemojtel, T.; Lichtenauer, U.; Duchniewicz, M.; Gantert, M. P.; Hecht, J.; Hattenhorst, U.; Burdach, S. et al.; Dorn, A.; Kamps, M. P.; Beuschlein, F.; Räpple, D.; Scheele, J. S.: PBX1 is dispensable for neural commitment of RA-treated murine ES cells. In Vitro Cellular & Developmental Biology - Animal 45 (5-6), pp. 252 - 263 (2009)
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Scheele, J. S.; Kolanczyk, M.; Gantert, M.; Zemojtel, T.; Dorn, A.; Sykes, D. B.; Möbest, D. C. C.; Kamps, M. P.; Räpple, D.: The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1. Leukemia & Lymphoma 50 (5), pp. 816 - 828 (2009)
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Gao, B.; Hu, J.; Stricker, S.; Cheung, M.; Ma, G.; Law, K. F.; Witte, F.; Briscoe, J.; Mundlos, S.; He, L. et al.; Cheah, K. S. E.; Chan, D.: A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 458 (7242), pp. 1196 - 1200 (2009)
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Witte, F.; Dokas, J.; Neuendorf, F.; Mundlos, S.; Stricker, S.: Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expression Patterns 9 (4), pp. 215 - 223 (2009)
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Kuss, P.; Villavicencio-Lorini, P.; Witte, F.; Klose, J.; Albrecht, A. N.; Seemann, P.; Hecht, J.; Mundlos, S.: Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. Journal of Clinical Investigation 119 (1), pp. 146 - 156 (2009)
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Pamuka, Ö. N.; Mundlos, S.; Çakir, N.: Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine 75 (6), pp. 725 - 727 (2008)
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Rödelsperger, C.; Dieterich, C.: Syntenator: Multiple gene order alignments with a gene-specific scoring function. Algorythms for Molecular Biology 3, p. 14 - 14 (2008)
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Robinson, P. N.; Köhler, S.; Bauer, S.; Seelow, D.; Horn, D.; Mundlos, S.: The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics 83 (5), pp. 610 - 615 (2008)
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Brunetti-Pierri, N.; del Gaudio, D.; Peters, H.; Justino, H.; Ott, C.-E.; Mundlos, S.; Bacino, C. A.: Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics Part A 146A (21), pp. 2804 - 2809 (2008)
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Van Maldergem, L.; Yuksel-Apak, M.; Kayserili, H.; Seemanova, E.; Giurgea, S.; Basel-Vanagaite, L.; Leao-Teles, E.; Vigneron, J.; Foulon, M.; Greally, M. et al.; Jaeken, J.; Mundlos, S.; Dobyns, W. B.: Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology, pp. 1602 - 1608 (2008)
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Winkel, A.; Stricker, S.; Tylzanowski, P.; Seiffart, V.; Mundlos, S.; Gross, G.; Hoffmann, A.: Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. Cellular Signalling 20 (11), pp. 2134 - 2144 (2008)
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Klopocki, E.; Graul-Neumann, L. M.; Grieben, U.; Tönnies, H.; Ropers, H.-H.; Horn, D.; Mundlos, S.; Ullmann, R.: A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 167 (8), pp. 903 - 908 (2008)
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Kolanczyk, M.; Kühnisch, J.; Kossler, N.; Osswald, M.; Stumpp, S.; Thurisch, B.; Kornak, U.; Mundlos, S.: Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine 31 (6), p. 21 - 21 (2008)
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Jeong, J.-H.; Jin, J.-S.; Kim, H.-N.; Kang, S.-M.; Liu, J. C.; Lengner, C. J.; Otto, F.; Mundlos, S.; Stein, J. L.; van Wijnen, A. J. et al.; Lian, J. B.; Stein, G. S.; Choi, J.-Y.: Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. Journal of Cellular Physiology 217 (2), pp. 511 - 517 (2008)
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Douzgou, S.; Lehmann, K.; Mingarelli, R.; Mundlos, S.; Dallapiccola, B.: Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A 146A (16), pp. 2116 - 2121 (2008)
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