Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2021
  2. E-pub ahead of print

    Oliver McFarlane syndrome: two new cases and a review of the literature

    Lisbjerg, K., Andersen, M. K. G., Bertelsen, M., Brost, A. G., Buchvald, F. F., Jensen, R. B., Bisgaard, A-M., Rosenberg, T., Tümer, Z. & Kessel, L., 5 Apr 2021, (E-pub ahead of print) In: Ophthalmic Genetics. 42, 4, p. 464-473 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2020
  4. Published

    Transcorneal electrical stimulation for the treatment of retinitis pigmentosa - a multicenter safety study of the OkuStim® System (TESOLA-study)

    Jolly, J. K., Wagner, S. K., Martus, P., MacLaren, R. E., Wilhelm, B., Webster, A. R., Downes, S. M., Charbel Issa, P., Kellner, U., Jägle, H., Rüther, K., Bertelsen, M., Bragadóttir, R., Prener Holtan, J., van den Born, I., Sodi, A., Virgili, G., Gosheva, M., Pach, J., Zündorf, I., Zrenner, E. & Gekeler, F., May 2020, In: Ophthalmic Research. 63, 3, p. 234-243 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Retinal Structure in RPE65-Associated Retinal Dystrophy

    Kumaran, N., Georgiou, M., Bainbridge, J. W. B., Bertelsen, M., Larsen, M., Blanco-Kelly, F., Ayuso, C., Tran, H. V., Munier, F. L., Kalitzeos, A. & Michaelides, M., 9 Apr 2020, In: Investigative ophthalmology & visual science. 61, 4, p. 47 47.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published
  7. 2019
  8. Published

    Gentagne diploid biparental molae

    Butt, S. A., Kelstrup, L., Lidang, M., Bertelsen, M., Ejrnæs, K., Sunde, L. & Perin, T. L., 12 Aug 2019, In: Ugeskrift for Laeger. 181, 33, p. V02190144

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. Published

    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Jespersgaard, C., Fang, M., Bertelsen, M., Dang, X., Jensen, H., Chen, Y., Bech, N., Dai, L., Rosenberg, T., Zhang, J., Møller, L. B., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 4 Feb 2019, In: Scientific Reports. 9, 1, p. 1219 1219.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2018
  12. Published

    Vitamin A in Stargardt disease-an evidence-based update

    Federspiel, C. A., Bertelsen, M. & Kessel, L., Oct 2018, In: Ophthalmic Genetics. 39, 5, p. 555-559 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

    Valkenburg, D., van Cauwenbergh, C., Lorenz, B., van Genderen, M. M., Bertelsen, M., Pott, J-W. R., Coppieters, F., de Zaeytijd, J., Thiadens, A. A. H. J., Klaver, C. C. W., Kroes, H. Y., van Schooneveld, M. J., Preising, M., Hoyng, C. B., Leroy, B. P., van den Born, L. I. & Collin, R. W. J., 4 Sep 2018, In: Investigative ophthalmology & visual science. 59, 11, p. 4384-4391 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

    Zernant, J., Lee, W., Nagasaki, T., Collison, F. T., Fishman, G. A., Bertelsen, M., Rosenberg, T., Gouras, P., Tsang, S. H. & Allikmets, R., Aug 2018, In: Cold Spring Harbor Molecular Case Studies. 4, 4, p. a002733

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2016
  16. Published

    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    Astuti, G. D. N., Bertelsen, M., Preising, M. N., Ajmal, M., Lorenz, B., Faradz, S. M. H., Qamar, R., Collin, R. W. J., Rosenberg, T. & Cremers, F. P. M., 2016, In: European journal of human genetics : EJHG. 24, 7, p. 1071-9

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2015
  18. Published

    Long-term trajectories of positive and negative symptoms in first episode psychosis: A 10 year follow-up study in the OPUS cohort

    Austin, S. F., Mors, O., Budtz-Jørgensen, E., Secher, R. G., Hjorthøj, C. R., Bertelsen, M., Jeppesen, P., Petersen, L., Thorup, A. & Nordentoft, M., Oct 2015, In: Schizophrenia Research. 168, 1-2, p. 84-91 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark

    Bertelsen, M., Linneberg, A. & Rosenberg, T., Mar 2015, In: Acta Ophthalmologica. 93, 2, p. 134-40 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. 2014
  21. Published

    Analysis of the ABCA4 genomic locus in Stargardt disease

    Zernant, J., Xie, Y. A., Ayuso, C., Riveiro-Alvarez, R., Lopez-Martinez, M-A., Simonelli, F., Testa, F., Gorin, M. B., Strom, S. P., Bertelsen, M., Rosenberg, T., Boone, P. M., Yuan, B., Ayyagari, R., Nagy, P. L., Tsang, S. H., Gouras, P., Collison, F. T., Lupski, J. R., Fishman, G. A. & Allikmets, R., 20 Dec 2014, In: Human Molecular Genetics. 23, 25, p. 6797-806 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Prevalence of generalized retinal dystrophy in Denmark

    Bertelsen, M., Jensen, H., Bregnhøj, J. F. & Rosenberg, T., Aug 2014, In: Ophthalmic Epidemiology. 21, 4, p. 217-23 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies

    Bertelsen, M., Zernant, J., Larsen, M., Duno, M., Allikmets, R. & Rosenberg, T., Apr 2014, In: Investigative ophthalmology & visual science. 55, 4, p. 2766-76 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Mortality in patients with central retinal vein occlusion

    Bertelsen, M., Linneberg, A., Christoffersen, N., Vorum, H., Gade, E. & Larsen, M., Mar 2014, In: Ophthalmology. 121, 3, p. 637-42 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published
  26. Published

    Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

    Siemiatkowska, A. M., van den Born, L. I., van Genderen, M. M., Bertelsen, M., Zobor, D., Rohrschneider, K., van Huet, R. A. C., Nurohmah, S., Klevering, B. J., Kohl, S., Faradz, S. M. H., Rosenberg, T., den Hollander, A. I., Collin, R. W. J. & Cremers, F. P. M., 2014, In: Molecular Vision. 20, p. 753-9 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2013
  28. Published

    New treatments of hereditary blindness

    Bertelsen, M., Rosenberg, T. & Larsen, M., 2 Sep 2013, In: Ugeskrift for Laeger. 175, 36, p. 2038-2042 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

    Bertelsen, M., Jensen, H., Larsen, M., Lorenz, B., Preising, M. N. & Rosenberg, T., Jun 2013, In: Ophthalmic Epidemiology. 20, 3, p. 164-69 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2012
  31. Published

    Comorbidity in patients with branch retinal vein occlusion: case-control study

    Bertelsen, M., Linneberg, A., Rosenberg, T., Christoffersen, N., Vorum, H., Gade, E. F. & Larsen, M., 2012, In: B M J. 345, p. e7885

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 2011
  33. Published

    An evaluation of the Danish national clinical guidelines for von Hippel-Lindau (VHL)

    Bertelsen, M. & Kosteljanetz, M., 2011, In: Acta Neurochirurgica. 153, 1, p. 35-41; discussion 41

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36892646