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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published
  3. 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

  4. 2018
  5. Published
  6. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M., Tommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., Nov 2018, In : P L o S Genetics. 14, 11, p. e1007780

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

    Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, J. E. K., Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M. A., Prpic, I., Poch-Olive, M. L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G. W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C. & Garavelli, L., Sep 2018, In : Genetics in medicine : official journal of the American College of Medical Genetics. 20, 9, p. 965-975

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Potential link between sporadic cerebral amyloid angiopathy and vision loss: a case report

    Vohra, R., Hjortshøj, T. D., Nordling, M. M., Sørensen, T. L., Jensen, P. K. & Kolko, M., Sep 2018, In : Acta Ophthalmologica. 96, 6, p. e753-e755

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. Published

    Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

    Wolfe, K., McQuillin, A., Alesi, V., Boudry Labis, E., Cutajar, P., Dallapiccola, B., Dentici, M. L., Dieux-Coeslier, A., Duban-Bedu, B., Duelund Hjortshøj, T., Goel, H., Loddo, S., Morrogh, D., Mosca-Boidron, A-L., Novelli, A., Olivier-Faivre, L., Parker, J., Parker, M. J., Patch, C., Pelling, A. L., Smol, T., Tümer, Z., Vanakker, O., van Haeringen, A., Vanlerberghe, C., Strydom, A., Skuse, D. & Bass, N., Jun 2018, In : American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 177/4, p. 397-405

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Første danske patient med et genkendeligt genetisk KBG-syndrom

    Bayat, A., Møller, L. B. & Hjortshøj, T. D., 12 Mar 2018, In : Ugeskrift for Laeger. 180, 11, p. V11170848

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Rasmussen, M., Sunde, L., Nielsen, M. L., Ramsing, M., Petersen, A., Hjortshøj, T. D., Olsen, T. E., Tabor, A., Hertz, J. M., Johnsen, I., Sperling, L., Petersen, O. B., Jensen, U. B., Møller, F. G., Petersen, M. B. & Lildballe, D. L., 2018, In : Clinical Genetics. 93, 4, p. 860-69

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2017
  14. 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

  15. Published

    Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A

    Mathiesen, J. S., van Overeem Hansen, T., Rasmussen, Å. K., Hjortshøj, T. D., Kiss, K., Larsen, S. R., Krogh, L. N., Frederiksen, A. L., Hermann, A. P. & Godballe, C., Aug 2017, In : Thyroid : official journal of the American Thyroid Association. 27, 8, p. 1103-1104 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2014
  17. Published

    Arvelige cerebrookulorenale syndromer

    Sessa, G., Hjortshøj, T. D. & Egfjord, M., 17 Feb 2014, In : Ugeskrift for læger [online]. 176, 8A

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2010
  19. Published

    Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

    Hjortshøj, T. D., Grønskov, K., Philp, A. R., Nishimura, D. Y., Riise, R., Sheffield, V. C., Rosenberg, T. & Brøndum-Nielsen, K., Apr 2010, In : Human Mutation. 31, 4, p. 429-36 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 44722492