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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2021
  2. Published

    Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

    McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, B. R., Steensberg, J. N., Ek, J. & Baynam, G., Aug 2021, In: Clinical Genetics. 100, 2, p. 168-175 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes

    Gerdes, A-M., Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, B. R., May 2021, In: European journal of human genetics : EJHG. 29, 5, p. 851-860

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Genetisk screening af adopterede raske individer

    Wriedt, T. R., Gerdes, A-M. A., Roos, L. K., Hammer-Hansen, S., Christensen, M. B. & Diness, B. R., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Genetisk screening af kommende forældre

    Smed, V. M., Petersen, O. B. B., Gerdes, A-M. A., Diness, B. R. & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13

    Research output: Contribution to journalReviewResearchpeer-review

  6. Published

    Det danske screeningsprogram for hæmoglobinopatier

    Glenthøj, A., Samson, M., Toft, N., Diness, B. R., Askj R, N., Vojdeman, F. J., Birgens, H., Sørensen, M. B. & Petersen, J., 18 Jan 2021, In: Ugeskrift for Laeger. 183, 3

    Research output: Contribution to journalReviewResearchpeer-review

  7. 2020
  8. Published
  9. Published

    Udredning og opfølgning af familiær aneurisme sygdom

    Diness, B. R., Rasmussen, M., Tørring, P., Graversen, L., Jelsig, A. M., Elset, S. E., Lindquist, S. G. & Hammer-Hansen, S., 28 May 2020

    Research output: Other contributionCommunication

  10. Published

    Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, B. R., Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E. & Gregersen, P. A., Feb 2020, In: European Journal of Medical Genetics. 63, 2, p. 103650

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2019
  12. Published

    Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Luyckx, I., Bolar, N., Diness, B. R., Hove, H. B., Verstraeten, A. & Loeys, B. L., 2019, In: European Journal of Medical Genetics. 62, 2, p. 96-96 1 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2018
  14. Published

    First reported adult patient with TARP syndrome: A case report

    Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B. & Nielsen, I. K., Dec 2018, In: American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

    Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J., Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, B., Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., May 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    A complex phenotype in a family with a pathogenic SOX3 missense variant

    Jelsig, A. M., Diness, B. R., Kreiborg, S., Main, K. M., Larsen, V. A. & Hove, H., 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-72

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. 2017
  19. Published

    Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

    Diness, B. R., Overbeck, G., Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. & McAllister, M., Oct 2017, In: Journal of Genetic Counseling. 26, 5, p. 1080-1089 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers

    Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, E. & Diness, B. R., 1 Sep 2017, In: Haemophilia. 23, 5, p. 466-468

    Research output: Contribution to journalLetterResearchpeer-review

  21. 2014
  22. Published

    Præsymptomatisk genetisk testning af børn bør kun foretages ved mulighed for intervention

    Andersen, J. B., Diness, B. R. & Brøndum-Nielsen, K., 22 Dec 2014, In: Ugeskrift for læger [online]. 176, 52

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Genomet i kardiologien

    Bundgaard, H., Diness, B. R., Tfelt-Hansen, J., Henriksen, F. L., Eschen, O., Skovby, F., Havndrup, O., Jensen, H. K. & Tybjærg-Hansen, A., 10 Nov 2014, In: Ugeskrift for læger [online]. 176, 46, p. 2168-72. V06140376

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    Grønskov, K., Diness, B., Stahlhut, M., Zilmer, M., Tümer, Z., Bisgaard, A-M. & Brøndum-Nielsen, K., 15 Apr 2014, In: European Journal of Medical Genetics. 57, 6, p. 284-7 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Grundig familieanamnese og et multidisciplinært samarbejde er vigtigt ved udredning af årsager til pludselig hjertedød

    Sørensen, C., Diness, B. R., Hansen, S. H., Bundgaard, H. & Steensberg, J., 10 Feb 2014, In: Ugeskrift for læger [online]. 176, 7A, p. V08130505

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2013
  27. Published

    Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

    Jensen, M. K., Havndrup, O., Christiansen, M., Andersen, P. S., Diness, B., Axelsson, A., Skovby, F., Køber, L. & Bundgaard, H., 1 Jan 2013, In: Circulation (Baltimore). 127, 1, p. 48-54 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2012
  29. Published

    Attitudes towards abortion among trainees in obstetrics/gynecology and clinical genetics

    Ingerslev, M. D., Diness, B. R. & Norup, M. S., 2012, In: Acta Obstetricia et Gynecologica Scandinavica. 91, 2, p. 256-9 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Severe postpartum haemorrhage and mode of delivery: a retrospective cohort study

    Holm, C., Langhoff-Roos, J., Petersen, K. B., Nørgaard, A. & Diness, B. R., 2012, In: B J O G. 119, 5, p. 596-604 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36823082