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Rigshospitalet - a part of Copenhagen University Hospital

B M C Medical Genetics, ‎1471-2350

Journal

  1. 2018
  2. Published

    Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis

    Sode, J., Bank, S., Vogel, U., Andersen, P. S., Sørensen, S. B., Bojesen, A. B., Andersen, M. R., Brandslund, I., Dessau, R. B., Hoffmann, H. J., Glintborg, B., Hetland, M. L., Locht, H., Heegaard, N. H. & Andersen, V., 12 Sep 2018, In: B M C Medical Genetics. 19, 1, p. 165-180 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2014
  4. Published

    Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

    Christiansen, M., Hedley, P. L., Theilade, J., Stoevring, B., Leren, T. P., Eschen, O., Sørensen, K. M., Tybjærg-Hansen, A., Ousager, L. B., Pedersen, L. N., Frikke-Schmidt, R., Aidt, F. H., Hansen, M. G., Hansen, J., Thomsen, P. E. B., Toft, E., Henriksen, F. L., Bundgaard, H., Jensen, H. K. & Kanters, J. K., 2014, In: B M C Medical Genetics. 15, p. 31

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2013
  6. Published

    Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

    Petersen, S., Dandanell, M., Rasmussen, L. J., Gerdes, A-M., Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, F. C. & Hansen, T. V. O., 2013, In: B M C Medical Genetics. 14, p. e103

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2012
  8. Published

    Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

    Almind, G. J., Ek, J., Rosenberg, T., Eiberg, H. R. L., Larsen, M., Lucamp, L., Brøndum-Nielsen, K. & Grønskov, K., 2012, In: B M C Medical Genetics. 13, p. 65

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Identification of 3 novel VHL germ-line mutations in Danish VHL patients

    Dandanell, M., Friis-Hansen, L., Sunde, L., Nielsen, F. C. & Hansen, T. V. O., 2012, In: B M C Medical Genetics. 13, p. 54

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

    Olesen, M. S., Bentzen, B. H., Nielsen, J. B., Steffensen, A. B., David, J-P., Jabbari, J., Jensen, P. H., Haunsø, S., Svendsen, J. H. & Schmitt, N., 2012, In: B M C Medical Genetics. 13, p. 24

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2011
  12. Published

    Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

    Almind, G. J., Grønskov, K., Milea, D., Larsen, M., Brøndum-Nielsen, K. & Ek, J., 2011, In: B M C Medical Genetics. 12, p. 49

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis

    Winkel, B. G., Hollegaard, M. V., Olesen, M. S., Svendsen, J. H., Haunsø, S., Hougaard, D. M. & Tfelt-Hansen, J., 2011, In: B M C Medical Genetics. 12, p. 22

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2010
  15. Published

    Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

    Boesgaard, T. W., Pruhova, S., Andersson, E. A., Cinek, O., Obermannova, B., Lauenborg, J., Damm, P., Bergholdt, R., Pociot, F., Pisinger, C., Barbetti, F., Lebl, J., Pedersen, O. & Hansen, T., 1 Jan 2010, In: B M C Medical Genetics. 11, p. 42

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

    Møller, D. V., Pecini, R., Gustafsson, F., Hassager, C., Hedley, P., Jespersgaard, C., Torp-Pedersen, C., Christiansen, M., Køber, L. V. & EchoCardiography and Heart Outcome Study Investigators, 1 Jan 2010, In: B M C Medical Genetics. 11, p. 117

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1

    Philips, M-A., Kingo, K., Karelson, M., Rätsep, R., Aunin, E., Reimann, E., Reemann, P., Porosaar, O., Vikeså, J., Nielsen, F. C., Vasar, E., Silm, H. & Kõks, S., 1 Jan 2010, In: B M C Medical Genetics. 11, p. 56

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2008
  19. Published

    The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples

    Olsen, L., Hansen, T., Jakobsen, K. D., Djurovic, S., Melle, I., Agartz, I., Hall, H., Ullum, H., Timm, S., Wang, A. G., Jönsson, E. G., Andreassen, O. A. & Werge, T., 2008, In: B M C Medical Genetics. 9, p. 39

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 118277