Journal Article (43)

  1. 1.
    Journal Article
    Robinson, P. N.: Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biology 11 (12), p. 11:144 - 11:144 (2010)
  2. 2.
    Journal Article
    Horbelt, D.; Guo, G.; Robinson, P. N.; Knaus, P.: Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. Journal of Cell Science 123 (Pt 24), pp. 4340 - 4350 (2010)
  3. 3.
    Journal Article
    Timmermann, B.; Kerick, M.; Roehr, C.; Fischer, A.; Isau, M.; Boerno, S. T.; Wunderlich, A.; Barmeyer, C.; Seemann, P.; Koenig, J. et al.; Lappe, M.; Kuss, A. W.; Garshasbi, M.; Bertram, L.; Trappe, K.; Werber, M.; Herrmann, B. G.; Zatloukal, K.; Lehrach, H.; Schweiger, M. R.: Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS ONE 5 (12), p. e15661 - e15661 (2010)
  4. 4.
    Journal Article
    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), pp. 582 - 594 (2010)
  5. 5.
    Journal Article
    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), pp. 3016 - 3021 (2010)
  6. 6.
    Journal Article
    Rödelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Köhler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Research 24 (2), pp. 1 - 11 (2010)
  7. 7.
    Journal Article
    Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.: Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A 152A (11), pp. 2749 - 2755 (2010)
  8. 8.
    Journal Article
    Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P. et al.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation 31 (11), pp. E1851 - E1860 (2010)
  9. 9.
    Journal Article
    Albrecht, B.; de Brouwer, A. P.; Lefeber, D. J.; Cremer, K.; Hausser, I.; Rossen, N.; Wortmann, S. B.; Wevers, R. A.; Kornak, U.; Morava, E.: MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. American Journal of Medical Genetics. Part A. 152A (11), pp. 2916 - 2918 (2010)
  10. 10.
    Journal Article
    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), pp. 2832 - 2837 (2010)
  11. 11.
    Journal Article
    Rybczynski, M.; Mir, T. S.; Sheikhzadeh, S.; Bernhardt, A. M.; Schad, C.; Treede, H.; Veldhoen, S.; Groene, E. F.; Kühne, K.; Koschyk, D. et al.; Robinson, P. N.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.: Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. American Journal of Cardiol 106 (7), pp. 1048 - 1053 (2010)
  12. 12.
    Journal Article
    Belavy, D. L.; Bock, O.; Borst, H.; Armbrecht, G.; Gast, U.; Degner, C.; Beller, G.; Soll, H.; Salanova, M.; Habazettl, H. et al.; Heer, M.; de Haan, A.; Stegeman, D. F.; Cerretelli, P.; Blottner, D.; Rittweger, J.; Gelfi, C.; Kornak, U.; Felsenberg, D.: The 2nd Berlin BedRest Study: protocol and implementation. Journal of Musculoskeletal and Neuronal Interaction 10 (3), pp. 207 - 219 (2010)
  13. 13.
    Journal Article
    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), pp. 827 - 829 (2010)
  14. 14.
    Journal Article
    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), pp. 827 - 829 (2010)
  15. 15.
    Journal Article
    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), pp. 827 - 829 (2010)
  16. 16.
    Journal Article
    Neutzsky-Wulff, A. V.; Sims, N. A.; Supanchart, C.; Kornak, U.; Felsenberg, D.; Poulton, I. J.; Martin, T. J.; Karsdal, M. A.; Henriksen, K.: Severe developmental bone phenotype in ClC-7 deficient mice. Developmental Biology 344 (2), pp. 1001 - 1010 (2010)
  17. 17.
    Journal Article
    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), pp. 265 - 273 (2010)
  18. 18.
    Journal Article
    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), pp. 14211 - 14216 (2010)
  19. 19.
    Journal Article
    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), pp. 1310 - 1314 (2010)
  20. 20.
    Journal Article
    Weinert, S.; Jabs, S.; Supanchart, C.; Schweizer, M.; Gimber, N.; Richter, M.; Rademann, J.; Stauber, T.; Kornak, U.; Jentsch, T. J.: Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Science 328 (5984), pp. 1401 - 1403 (2010)
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