Publikationen von Stefan Mundlos

Seemann, P.; Brehm, A.; König, J.; Reissner, C.; Stricker, S.; Kuss, P.; Haupt, J.; Renninger, S.; Nickel, J.; Sebald, W. et al.; Groppe, J. C.; Plöger, F.; Schmidt-von Kegler, M.; Walther, M.; Gassner, I.; Rusu, C.; Janecke, A. R.; Dathe, K.; Mundlos, S.: Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genetics 5 (11), S. e1000747 - e1000747 (2009)

Weise, A.; Timmermann, B.; Grabherr, M.; Werber, M.; Heyn, P.; Kosyakova, N.; Liehr, T.; Neitzel, H.; Konrat, K.; Bommer, C. et al.; Dietrich, C.; Rajab, A.; Reinhardt, R.; Mundlos, S.; Lindner, T. H.; Hoffmann, K.: High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, S. 1 - 6 (2009)

Schwarzer, W.; Witte, F.; Rajab, A.; Mundlos, S.; Stricker, S.: A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics 18 (21), S. 4013 - 4021 (2009)

Elefteriou, F.; Kolanczyk, M.; Schindeler, A.; Viskochil, D. H.; Hock, J. M.; Schorry, E. K.; Crawford, A. H.; Friedman, J. M.; Little, D.; Peltonen, J. et al.; Carey, J. C.; Feldman, D.; Yu, X.; Armstrong, L.; Birch, P.; Kendler, D. L.; Mundlos, S.; Yang, F.-C.; Agiostratidou, G.; Hunter-Schaedle, K.; Stevenson, D. A.: Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A 149A (10), S. 2327 - 2338 (2009)

Köhler, S.; Schulz, M. H.; Bauer, S.; Dölken, S.; Ott, C. E.; Mundlos, C.; Horn, D.; Mundlos, S.; Robinson, P. N.: Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 85 (4), S. 457 - 464 (2009)

Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.; Shboul, M.; Tham, P.-Y.; Kayserili, H.; Al-Gazali, L. et al.; Shahwan, M.; Brancati, F.; Lee, H.; O'Connor, B. D.; Schmidt-von Kegler, M.; Merriman, B.; Nelson, S. F.; Masri, A.; Alkazaleh, F.; Guerra, D.; Ferrari, P.; Nanda, A.; Rajab, A.; Markie, D.; Gray, M.; Nelson, J.; Grix, A.; Sommer, A.; Savarirayan, R.; Janecke, A. R.; Steichen, E.; Sillence, D.; Haußer, I.; Budde, B.; Nürnberg, G.; Nürnberg, P.; Seemann, P.; Kunkel, D.; Zambruno, G.; Dallapiccola, B.; Schuelke, M.; Robertson, S.; Hamamy, H.; Wollnik, B.; Van Maldergem, L.; Mundlos, S.; Kornak, U.: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 41, S. 1016 - 1021 (2009)

Kurth, I.; Klopocki, E.; Stricker, S.; van Oosterwijk, J.; Vanek, S.; Altmann, J.; Santos, H. G.; van Harssel, J. J. T.; de Ravel, T.; Wilkie, A. O. M. et al.; Gal, A.; Mundlos, S.: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 41 (8), S. 862 - 863 (2009)

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), S. 1247 - 1262 (2009)

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), S. 2149 - 2165 (2009)

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, S. e1000487 - e1000487 (2009)

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), S. 1196 - 1200 (2009)

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), S. 215 - 223 (2009)

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), S. 146 - 156 (2009)

Pamuka, Ö. N.; Mundlos, S.; Çakir, N.: Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine 75 (6), S. 725 - 727 (2008)

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), S. 610 - 615 (2008)

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), S. 2804 - 2809 (2008)

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, S. 1602 - 1608 (2008)

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), S. 2134 - 2144 (2008)

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), S. 903 - 908 (2008)

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), S. 21 - 21 (2008)