Publications

Journal Article (30)

  1. 1.
    Journal Article
    Pamuka, Ö. N.; Mundlos, S.; Çakir, N.: Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine 75 (6), pp. 725 - 727 (2008)
  2. 2.
    Journal Article
    Rödelsperger, C.; Dieterich, C.: Syntenator: Multiple gene order alignments with a gene-specific scoring function. Algorythms for Molecular Biology 3, p. 14 - 14 (2008)
  3. 3.
    Journal Article
    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), pp. 610 - 615 (2008)
  4. 4.
    Journal Article
    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), pp. 2804 - 2809 (2008)
  5. 5.
    Journal Article
    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, pp. 1602 - 1608 (2008)
  6. 6.
    Journal Article
    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), pp. 2134 - 2144 (2008)
  7. 7.
    Journal Article
    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), pp. 903 - 908 (2008)
  8. 8.
    Journal Article
    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), p. 21 - 21 (2008)
  9. 9.
    Journal Article
    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), pp. 511 - 517 (2008)
  10. 10.
    Journal Article
    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), pp. 2116 - 2121 (2008)
  11. 11.
    Journal Article
    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), pp. 615 - 621 (2008)
  12. 12.
    Journal Article
    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), pp. 560 - 565 (2008)
  13. 13.
    Journal Article
    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), pp. 560 - 565 (2008)
  14. 14.
    Journal Article
    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), pp. 1859 - 1864 (2008)
  15. 15.
    Journal Article
    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), pp. 1859 - 1864 (2008)
  16. 16.
    Journal Article
    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), pp. 965 - 976 (2008)
  17. 17.
    Journal Article
    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), p. E26 - E26 (2008)
  18. 18.
    Journal Article
    Guo, G.; Bauer, S.; Hecht, J.; Schulz, M. H.; Busche, A.; Robinson, P. N.: A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. The International Journal of Biochemistry & Cell Biology 40 (4), pp. 638 - 650 (2008)
  19. 19.
    Journal Article
    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, pp. 1070 - 1074 (2008)
  20. 20.
    Journal Article
    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), p. e1000025 - e1000025 (2008)
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