Publikationen von Stefan Mundlos

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)

Seitz, V.; Stiege, A. C.; Mundlos, S.; Lenze, D.; Lammert, H.; Clermont, A.; Hirsch, B.; Von Der Wall, E.; Müller, H.; Kirsch, A. et al.; Diaz-Espada, F.; Uharek, L.; Anagnostopoulos, I.; Stein, H.; Hummel, M.: Immunoglobulin receptor evolution in follicular lymphoma and a review of literature. Leukemia & Lymphoma 48 (10), S. 2063 - 2067 (2007)

Uhrig, S.; Schlembach, D.; Waldispuehl-Geigl, J.; Schaffer, W.; Geigl, J.; Klopcki, E.; Mundlos, S.; Speicher, M. R.: Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. American Journal of Human Genetics: AJHG 81 (4), S. 866 - 868 (2007)

Lehmann, K.; Seemann, P.; Silan, F.; Goecke, T. O.; Irgang, M.; Kjaer, K. W.; Kjaergaard, S.; Mahoney, M. J.; Morlot, S.; Reissner, C. et al.; Kerr, B.; Wilkie, A. O. M.; Mundlos, S.: A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. The American Journal of Human Genetics: AJHG 81 (12), S. 388 - 396 (2007)

Trepczi, B.; Lienau, J.; Schell, H.; Epari, D. R.; Thompson, M. S.; Hoffmann, J.-E.; Kadow-Romacker, A.; Mundlos, S.; Duda, G. N.: Endochondral ossification in vitro is influenced by mechanical bending. Bone 40 (3), S. 597 - 603 (2007)

Kolanczyk, M.; Kossler, N.; Kühnisch, J.; Lavitas, L.; Stricker, S.; Wilkening, U.; Manjubala, I.; Fratzl, P.; Spörle, R.; Herrmann, B. G. et al.; Parada, L. F.; Kornak, U.; Mundlos, S.: Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 16 (8), S. 232 - 240 (2007)

Castori, M.; Brancati, F.; Mingarelli, R.; Mundlos, S.; Dallapiccola, B.: A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. American Journal of Medical Genetics/ Part A 143 (2), S. 195 - 199 (2007)

Klopocki, E.; Schulze, H.; Strauß, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M. et al.; Habenicht, R.; König, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Mundlos, S.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 80 (2), S. 232 - 240 (2007)

Klopocki, E.; Schulze, H.; Strauß, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M. et al.; Habenicht, R.; König, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Mundlos, S.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 80 (2), S. 232 - 240 (2007)

Zenker, M.; Lehmann, K.; Schulz, A. L.; Barth, H.; Hansmann, D.; Koenig, R.; Korinthenberg, R.; Kreiss-Nachtsheim, M.; Meinecke, P.; Morlot, S. et al.; Mundlos, S.; Quante, A. S.; Raskin, S.; Schnabel, D.; Wehner, L.-E.; Kratz, C. P.; Horn, D.; Kutsche, K.: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. Journal of Medical Genetics 44 (2), S. 131 - 135 (2007)

Hecht, J.; Seitz, V.; Urban, M.; Wagner, F.; Robinson, P. N.; Stiege, A.; Dieterich, C.; Kornak, U.; Wilkening, U.; Brieske, N. et al.; Zwingman, C.; Kidess, A.; Stricker, S.; Mundlos, S.: Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model. Gene Expression Patterns: A Section of Brain Research Devoted to Patterns of Expression of Genes during the Development, Maturity and Aging of the Central Nervous System 7 (1 - 2), S. 102 - 112 (2007)

Klopocki, E.; Neumann, L. M.; Tönnies, H.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 14 (121), S. 1274 - 1279 (2006)