Publikationen von S. Mundlos

Kossler, N.; Stricker, S.; Rodelsperger, C.; Robinson, P. N.; Kim, J.; Dietrich, C.; Osswald, M.; Kuhnisch, J.; Stevenson, D. A.; Braun, T. et al.; Mundlos, S.; Kolanczyk, M.: Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20 (14), S. 2697 - 709 (2011)

Lange, C.; Li, C.; Manjubala, I.; Wagermaier, W.; Kuhnisch, J.; Kolanczyk, M.; Mundlos, S.; Knaus, P.; Fratzl, P.: Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. J Struct Biol 176 (2), S. 159 - 67 (2011)

Marchal, J. A.; Ghani, M.; Schindler, D.; Gavvovidis, I.; Winkler, T.; Esquitino, V.; Sternberg, N.; Busche, A.; Krawitz, P.; Hecht, J. et al.; Robinson, P.; Mundlos, S.; Graul-Neumann, L.; Sperling, K.; Trimborn, M.; Neitzel, H.: Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 10 (17), S. 2967 - 77 (2011)

Ott, C. E.; Grunhagen, J.; Jager, M.; Horbelt, D.; Schwill, S.; Kallenbach, K.; Guo, G.; Manke, T.; Knaus, P.; Mundlos, S. et al.; Robinson, P. N.: MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 6 (1), S. e16250 (2011)

Robinson, P. N.; Krawitz, P.; Mundlos, S.: Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 80 (2), S. 127 - 32 (2011)

Rump, P.; Jongbloed, J. D.; Sikkema-Raddatz, B.; Mundlos, S.; Klopocki, E.; van der Luijt, R. B.: Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet A 155A (10), S. 2566 - 70 (2011)

Spielmann, M.; Reichelt, G.; Hertzberg, C.; Trimborn, M.; Mundlos, S.; Horn, D.; Klopocki, E.: Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet 54 (4), S. e441 - 5 (2011)

Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-Skipped Related Genes Regulate Differentiation of Embryonic Limb Mesenchyme and Bone Marrow Mesenchymal Stromal Cells. Stem Cells Dev (2011)

Stricker, S.; Mundlos, S.: FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development. Curr Top Dev Biol 97, S. 179 - 206 (2011)

Stricker, S.; Mundlos, S.: Mechanisms of digit formation: Human malformation syndromes tell the story. Dev Dyn 240 (5), S. 990 - 1004 (2011)

Warman, M. L.; Cormier-Daire, V.; Hall, C.; Krakow, D.; Lachman, R.; LeMerrer, M.; Mortier, G.; Mundlos, S.; Nishimura, G.; Rimoin, D. L. et al.; Robertson, S.; Savarirayan, R.; Sillence, D.; Spranger, J.; Unger, S.; Zabel, B.; Superti-Furga, A.: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A (5), S. 943 - 68 (2011)

Harder, A.; Titze, S.; Herbst, L.; Harder, T.; Guse, K.; Tinschert, S.; Kaufmann, D.; Rosenbaum, T.; Mautner, V. F.; Windt, E. et al.; Wahlländer-Danek, U.; Wimmer, K.; Mundlos, S.; Peters, H.: Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies. 13 (6), S. 582 - 594 (2010)

Lacombe, D.; Delrue, M. A.; Rooryck, C.; Morice-Picard, F.; Arveiler, B.; Maugey-Laulom, B.; Mundlos, S.; Toutain, A.; Chateil, J. F.: Brachydactyly type A1 with short humerus and associated skeletal features. American Journal of Medical Genetics Part A 152A (12), S. 3016 - 3021 (2010)

Kantaputra, P. N.; Mundlos, S.; Sripathomsawat, W.: A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. American Journal of Medical Genetics Part A 152A (11), S. 2832 - 2837 (2010)

Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), S. 827 - 829 (2010)

Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), S. 827 - 829 (2010)

Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), S. 827 - 829 (2010)

Brancati, F.; Fortugno, P.; Bottillo, I.; Lopez, M.; Josselin, E.; Boudghene-Stambouli, O.; Agolini, E.; Bernardini, L.; Bellacchio, E.; Iannicelli, M. et al.; Rossi, A.; Dib-Lachachi, A.; Stuppia, L.; Palka, G.; Mundlos, S.; Stricker, S.; Kornak, U.; Zambruno, G.; Dallapiccola, B.: Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. American Journal of Human Genetics 87 (2), S. 265 - 273 (2010)

Witte, F.; Chan, D.; Economides, A. N.; Mundlos, S.; Stricker, S.: Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. Proceedings of the National Academy of Sciences U S A 107 (32), S. 14211 - 14216 (2010)

Kantaputra, P. N.; Klopocki, E.; Hennig, B. P.; Praphanphoj, V.; Le Caignec, C.; Isidor, B.; Kwee, M. L.; Shears, D. J.; Mundlos, S.: Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics 18 (12), S. 1310 - 1314 (2010)