Journal Article (18)

  1. 1.
    Journal Article
    Sammar, M.; Stricker, S.; Schwabe, G. C.; Sieber, C.; Hartung, A.; Hanke, M.; Oishi, I.; Pohl, J.; Minami, Y.; Sebald, W. et al.; Mundlos, S.; Knaus, P.: Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells 9 (12), pp. 1227 - 1238 (2004)
  2. 2.
    Journal Article
    Innis, J. W.; Mortlock, D.; Chen, Z.; Ludwig, M.; Williams, M. E.; Williams, T. M.; Doyle, C. D.; Shao, Z.; Glynn, M.; Mikulic, D. et al.; Lehmann, K.; Mundlos, S.; Utsch, B.: Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics 13 (22), pp. 2841 - 2851 (2004)
  3. 3.
    Journal Article
    Seelow, D.; Galli, R.; Mebus, S.; Sperling, H.-P.; Lehrach, H.; Sperling, S.: d-matrix – database exploration, visualization and analysis. BMC Bioinformatics 5, p. 168 - 168 (2004)
  4. 4.
    Journal Article
    Albrecht, A. N.; Kornak, U.; Böddrich, A.; Süring, K.; Robinson, P. N.; Stiege, A. C.; Lurz, R.; Stricker, S.; Wanker, E. E.; Mundlos, S.: A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 13 (20), pp. 2351 - 2359 (2004)
  5. 5.
    Journal Article
    Robinson, P. N.; Böhme, U.; Lopez, R.; Mundlos, S.; Nürnberg, P.: Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Human Molecular Genetics 13 (17), pp. 1969 - 1978 (2004)
  6. 6.
    Journal Article
    Thiele, H.; Sakano, M.; Kitagawa, H.; Sugahara, K.; Rajab, A.; Höhne, W.; Ritter, H.; Leschik, G.; Nürnberg, P.; Mundlos, S.: Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proceedings of the National Academy of Sciences 101 (27), pp. 10155 - 10160 (2004)
  7. 7.
    Journal Article
    Bartels, C. F.; Bükülmez, H.; Padayatti, P.; Rhee, D. K.; van Ravenswaaij-Arts, C.; Pauli, R. M.; Mundlos, S.; Chitayat, D.; Shih, L.-Y.; Al-Gazali, L. I. et al.; Kant, S.; Cole, T.; Morton, J.; Cormier-Daire, V.; Faivre, L.; Lees, M.; Kirk, J.; Mortier, G. R.; Leroy, J.; Zabel, B.; Kim, C. A.; Crow, Y.; Braverman, N. E.; van den Akker, F.; Warman, M. L.: Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics 75 (1), pp. 27 - 34 (2004)
  8. 8.
    Journal Article
    Rajab, A.; Kunze, J.; Mundlos, S.: Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement. American Journal of Medical Genetics 126A (4), pp. 413 - 419 (2004)
  9. 9.
    Journal Article
    Ramirez, A.; Faupel, J.; Goebel, I.; Stiller, A.; Beyer, S.; Stockle, C.; Hasan, C.; Bode, U.; Kornak, U.; Kubisch, C.: Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human Mutation 23 (5), pp. 471 - 476 (2004)
  10. 10.
    Journal Article
    Schwabe, G. C.; Mundlos, S.: Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie 36 (2-3), pp. 85 - 97 (2004)
  11. 11.
    Journal Article
    Nuber, U. A.; Tinschert, S.; Mundlos, S.; Hausser, I.: Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 125A (3), pp. 261 - 266 (2004)
  12. 12.
    Journal Article
    Nuber, U. A.; Tinschert, S.; Mundlos, S.; Hauber, I.: Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 125A (3), pp. 261 - 266 (2004)
  13. 13.
    Journal Article
    Nuber, U. A.; Tinschert, S.; Mundlos, S.; Hauber, I.: Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 125A (3), pp. 261 - 266 (2004)
  14. 14.
    Journal Article
    Thiele, H.; McCann, C.; van't Padje, S.; Schwabe, G. C.; Hennies, H. C.; Camera, G.; Opitz, J.; Laxova, R.; Mundlos, S.; Nurnberg, P.: Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 41 (3), pp. 213 - 218 (2004)
  15. 15.
    Journal Article
    Thiele, H.; McCann, C.; van’t Padje, S.; Schwabe, G. C.; Hennies, H. C.; Camera, G.; Opitz, J.; Laxova, R.; Mundlos, S.; Nürnberg, P.: Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 41 (3), pp. 213 - 218 (2004)
  16. 16.
    Journal Article
    Himmelfarb, M.; Klopocki, E.; Grube, S.; Staub, E.; Klaman, I.; Hinzmann, B.; Kristiansen, G.; Rosenthal, A.; Dürst, M.; Dahl, E.: ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer. Cancer Letters: an International Journal Providing a Forum for Original and Pertinent Contributions in Cancer Research 204 (1), pp. 69 - 77 (2004)
  17. 17.
    Journal Article
    Schwabe, G. C.; Türkmen, S.; Leschik, G.; Palanduz, S.; Stöver, B.; Goecke, T. O.; Mundlos, S.: Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics 124A (4), pp. 356 - 363 (2004)
  18. 18.
    Journal Article
    Schwabe, G. C.; Trepczik, B.; Süring, K.; Brieske, N.; Tucker, A. S.; Sharpe, P. T.; Minami, Y.; Mundlos, S.: Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics 229 (2), pp. 400 - 410 (2004)
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