Birgitte Rode Diness

Birgitte Rode Diness

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
11 - 20 out of 24Page size: 10
  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, Birgitte Rode, Steensberg, J. N., Ek, J. & Baynam, G., 2021, In: Clinical Genetics. 100, 2, p. 168-175

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 2020
  4. Published

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

    Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, Birgitte Rode, 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, 8 p., 103650.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Diness, Birgitte Rode, Palmquist, R. N., Norling, R., Hove, H., Bundgård, Henning, Hertz, J. M., Kondziella, Daniel, Krieger, D., Dunø, M. & Grønborg, S., 2020, In: Journal of the Neurological Sciences. 415, 116897.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. 2019
  7. Published

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

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

    Research output: Contribution to journal › Comment/debate › Research › peer-review

  8. 2018
  9. Published

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

    Jelsig, A. M., Diness, Birgitte Rode, Kreiborg, Sven, Main, Katharina Maria, Larsen, V. A. & Hove, H., Mar 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-172

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 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. & 22 others, Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, Birgitte Rode, 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., 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. Published

    First reported adult patient with TARP syndrome: A case report

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

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. Published

    Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

    Diness, Birgitte Rode, Risom, L., Frandsen, T. L., Hansen, B., Andersen, M. K., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2018, In: Genes Chromosomes and Cancer. 57, 12, p. 670-674 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. 2017
  14. Published

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

    Diness, Birgitte Rode, Overbeck, Gritt, 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 journal › Journal article › Research › peer-review

  15. Published

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

    Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, Eva & Diness, Birgitte Rode, 2017, In: Haemophilia. 23, 5, p. e466-e468

    Research output: Contribution to journal › Letter › Research › peer-review

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