Publikationen von Stefan Mundlos

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), S. 511 - 517 (2008)

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), S. 2116 - 2121 (2008)

Busche, A.; Klopocki, E.; Ullmann, R.; Mundlos, S.; Horn, D.: A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics 51 (6), S. 615 - 621 (2008)

Steichen-Gersdorf, E.; Gaßner, I. ..; Superti-Furga, A. ..; Ullmann, R.; Stricker, S.; Klopocki, E. ..; Mundlos, S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 74 (6), S. 560 - 565 (2008)

Steichen-Gersdorf, E.; Gaßner, I. ..; Superti-Furga, A. ..; Ullmann, R.; Stricker, S.; Klopocki, E. ..; Mundlos, S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 74 (6), S. 560 - 565 (2008)

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), S. 1859 - 1864 (2008)

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), S. 1859 - 1864 (2008)

Rajab, A.; Kornak, U.; Budde, B. S.; Hoffmann, K.; Jaeken, J.; Nürnberg, P.; Mundlos, S.: Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics Part A 146A (8), S. 965 - 976 (2008)

Humphrey, N.; Mundlos, S.; Türkmen, S.: Genes and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America 105 (21), S. E26 - E26 (2008)

Türkmen, S.; Hoffmann, K. ..; Demirhan, O.; Aruoba, D.; Humphrey, N.; Mundlos, S.: Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. European Journal of Human Genetics 16, S. 1070 - 1074 (2008)

Hecht, J.; Stricker, S.; Wiecha, U.; Stiege, A.; Panopoulou, G.; Podsiadlowski, L.; Poustka, A. J.; Dieterich, C.; Ehrich, S.; Suvorova, J. et al.; Mundlos, S.; Seitz, V.: Evolution of a core gene network for skeletogenesis in chordates. PLoS Genetics 4 (3), S. e1000025 - e1000025 (2008)

Raz, R.; Stricker, S.; Elizabetta Gazzerro, E.; Clor, J. L.; Witte, F.; Nistala, H.; Zabski, S.; Pereira, R. C.; Stadmeyer, L.; Wang, X. et al.; Gowen, L.; Sleeman, M. W.; Yancopoulos, G. D.; Canalis, E.; Mundlos, S.; Valenzuela, D. M. V.; Economides, A. N.: The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Development 135 (9), S. 1713 - 1723 (2008)

Michalk1, A.; Stricker, S.; Becker, J.; Rupps, R.; Pantzar, T.; Miertus, J.; Botta, G.; Naretto, V. G.; Janetzki, C.; Yaqoob, N. et al.; Ott, C.-E.; Seelow, D.; Wieczorek, D.; Fiebig, B.; Wirth, B.; Hoopmann, M.; Walther, M.; Körber, F.; Blankenburg, M.; Mundlos, S.; Heller, R.; Hoffmann, K.: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. The American Journal of Human Genetics, 82 (2), S. 464 - 476 (2008)

Ratzka, A.; Kalus, I.; Moser, M.; Dierks, T.; Mundlos, S.; Vortkamp, A.: Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Developmental Dynamics 237 (2), S. 339 - 353 (2008)

Plöger, F.; Seemann, P.; Schmidt-von Kegler, M.; Lehmann, K.; Seidel, J.; Kjaer, K. W.; Pohl, J.; Mundlos, S.: Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 17 (9), S. 122 - 133 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), S. 370 - 375 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), S. 370 - 375 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), S. 370 - 375 (2008)

Kornak, U.; Reynders, E.; Dimopoulou, A.; van Reeuwijk, J.; Fischer, B.; Rajab, A.; Budde, B.; Nürnberg, P.; Foulquier, F.; Lefeber, D. et al.; Urban, Z.; Gruenewald, S.; Annaert, W.; Brunner, H. G.; van Bokhoven, H.; Wevers, R.; Morava, E.; Matthijs, G.; Van Maldergem, L.; Mundlos, S.: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 40 (1), S. 32 - 34 (2008)

Abo-Dalo, B.; Kim, H.-G.; Roes, M.; Stefanova, M.; Higgins, A.; Shen, Y.; Mundlos, S.; Quade, B. J.; Gusella, J. F.; Kutsche, K.: Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. American Journal of Medical Genetics / Part A 143 (22), S. 2668 - 2674 (2007)