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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Madsen, A. M. H., Wibrand, F., Lund, A. M., Ek, J., Dunø, M. & Østergaard, E., Mar 2019, In : JIMD Reports. 46, 1, p. 35-45 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

    Grímsdóttir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A. & Hermann, N. V., Jan 2019, In : Clinical Dysmorphology. 28, 1, p. 41-45 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published
  5. Published

    Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Jensen, K. V., Frid, M., Stödberg, T., Barbaro, M., Wedell, A., Christensen, M., Bak, M., Ek, J., Madsen, C. G., Darin, N. & Grønborg, S., 2019, In : JIMD Reports. 50, 1, p. 1-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Is MED13L-related intellectual disability a recognizable syndrome?

    Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M. & Fagerberg, C. R., 2019, In : European Journal of Medical Genetics. 62, 2, p. 129-136

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2018
  8. Published

    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    Ferreira, C. R., Xia, Z-J., Clément, A., Parry, D. A., Davids, M., Taylan, F., Sharma, P., Turgeon, C. T., Blanco-Sánchez, B., Ng, B. G., Logan, C. V., Wolfe, L. A., Solomon, B. D., Cho, M. T., Douglas, G., Carvalho, D. R., Bratke, H., Haug, M. G., Phillips, J. B., Wegner, J., Tiemeyer, M., Aoki, K., Nordgren, A., Hammarsjö, A., Duker, A. L., Rohena, L., Hove, H. B., Ek, J., Adams, D., Tifft, C. J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A. H. S., Brick, L., Kozenko, M., Tham, E., Raymond, K. M., Phillips, J. A., Tiller, G. E., Wilson, W. G., Hamid, R., Malicdan, M. C. V., Nishimura, G., Grigelioniene, G., Jackson, A. & Undiagnosed Diseases Network, 4 Oct 2018, In : American Journal of Human Genetics. 103, 4, p. 553-567 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, K. B., Scheie, D., Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, E., Oct 2018, In : European journal of human genetics : EJHG. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published
  11. 2017
  12. Published

    Exome sequencing for syndrome diagnostics

    Østergaard, E., Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 24 Apr 2017, In : Ugeskrift for Laeger. 179, 17, p. V10160762

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2015
  14. Published

    The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

    Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., Tommerup, N., Stephani, U., Guerrini, R., Duno, M., Hjalgrim, H., Pal, D., Helbig, I., Møller, R. S. & MAE working group of the EuroEPINOMICS RES Consortium, 5 Nov 2015, In : Epilepsia. 56, 12, p. e203-e208

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published
  16. Published

    Molecular characterization of melanoma cases in denmark suspected of genetic predisposition

    Wadt, K. A. W., Aoude, L. G., Krogh, L., Sunde, L., Bojesen, A., Grønskov, K., Wartacz, N., Ek, J., Andersen, M. T., Andersen, M. K., Borg, Å., Heegaard, S., Kiilgaard, J. F., Hansen, T. V. O., Klein, K., Jönsson, G., Drzewiecki, K. T., Dunø, M., Hayward, N. K. & Gerdes, A-M., 2015, In : P L o S One. 10, 3, p. e0122662

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2014
  18. Published
  19. 2013
  20. Published

    Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

    Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E. & Nielsen, T. T., 2013, In : European Journal of Human Genetics. 21, p. 626-629

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Neutropenia responsive to ketogenic diet in an infant with GLUT1 deficiency syndrome

    Sørensen, C. M., Ifversen, M. R. S., Ek, J., Uldall, P. V. & Simonsen, H., 2013, In : Journal of Pediatric Epilepsy. 2/2013, p. 137-140

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2012
  23. 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

  24. 2011
  25. 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

  26. 2010
  27. Published

    Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study

    Munch, I. C., Ek, J., Kessel, L., Sander, B., Almind, G. J., Brøndum-Nielsen, K., Linneberg, A. & Larsen, M., 1 May 2010, In : Investigative ophthalmology & visual science. 51, 5, p. 2317-21 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2008
  29. Published

    The PPAR gamma 2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy

    Jorsal, A., Tarnow, L., Lajer, M., Ek, J., Hansen, T., Pedersen, O. & Parving, H-H., Jul 2008, In : Molecular Genetics and Metabolism. 94, 3, p. 347-51 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2006
  31. Published

    A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes

    Ek, J., Hansen, S., Lajer, M. S., Nicot, C., Boesgaard, T. W., Pruhova, S., Johansen, A., Albrechtsen, A., Yderstraede, K., Lauenborg, J., Parrizas, M., Boj, S. F., Jørgensen, T., Borch-Johnsen, K., Damm, P., Ferrer, J., Lebl, J., Pedersen, O. & Hansen, T., 1 Jun 2006, In : Diabetes. 55, 6, p. 1869-73 5 p.

    Research output: Contribution to journalJournal articleResearch

  32. 2004
  33. Published
  34. Published

    Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus

    Andersen, G., Wegner, L., Rose, C. S., Xie, J., Zhu, H., Larade, K., Johansen, A., Ek, J., Lauenborg, J., Drivsholm, T., Borch-Johnsen, K., Damm, P., Hansen, T., Bunn, H. F. & Pedersen, O., 1 Nov 2004, In : Diabetes. 53, 11, p. 2992-7 6 p.

    Research output: Contribution to journalJournal articleResearch

ID: 15516