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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2017
  2. Published

    The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

    Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Krogh Rasmussen, A., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., Dec 2017, In : Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, M. J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, E., 2017, In : JIMD Reports. 33, p. 69-77

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2016
  5. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. A., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K., Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A-M., Østergaard, E., Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., 13 Jul 2016, In : Journal of Medical Genetics. 53, p. 768-775

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    Rafiq, J., Duno, M., Østergaard, E., Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, J., 2016, In : JIMD Reports. 25, p. 65-70

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Ostergaard, E., 2016, In : American Journal of Medical Genetics. Part A. 170, 1, p. 142-147

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome

    Signorini, C., De Felice, C., Leoncini, S., Møller, R. S., Zollo, G., Buoni, S., Cortelazzo, A., Guerranti, R., Durand, T., Ciccoli, L., D'Esposito, M., Ravn, K. & Hayek, J., 2016, In : P L o S One. 11, 3, p. e0150101

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M., Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Ostergaard, E., 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 243-52

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2015
  11. Published
  12. Published
  13. Published

    Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

    Schönewolf-Greulich, B., Dunø, M., Ravn, K., Brøndum-Nielsen, K. & Bisgaard, A-M., 29 Jun 2015, In : Ugeskrift for Laeger. 177, 27, p. V12140731

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    Saunders, C., Smith, L., Wibrand, F., Ravn, K., Bross, P., Thiffault, I., Christensen, M., Atherton, A., Farrow, E., Miller, N., Kingsmore, S. F. & Ostergaard, E., 5 Feb 2015, In : American Journal of Human Genetics. 96, 2, p. 258-65 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Ostergaard, E., Weraarpachai, W., Ravn, K., Born, A. P., Jønson, L., Duno, M., Wibrand, F., Shoubridge, E. A. & Vissing, J., 20 Jan 2015, In : Journal of Medical Genetics. 52, 3, p. 203-07

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Ravn, K., Schönewolf-Greulich, B., Hansen, R. M., Bohr, A-H., Dunø, M., Wibrand, F. & Østergaard, E., 2015, In : Molecular Genetics and Metabolism Reports. 3, p. 5-10

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2014
  18. Published

    Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies

    Zink, A. M., Wohlleber, E., Engels, H., Rødningen, O. K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F. F., Kreiß-Nachtsheim, M., Vogt, P. H., Prescott, T. E., Tümer, Z. & Lee, J. A., Feb 2014, In : Molecular Syndromology. 5, 2, p. 65-75 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Low bone turnover phenotype in Rett syndrome: Results of biochemical bone marker analysis

    Roende, G., Petersen, J., Ravn, K., Fuglsang, K., Andersen, H., Nielsen, J. B., Brøndum-Nielsen, K. & Jensen, J-E. B., 29 Jan 2014, In : Pediatric Research. 75, 4, p. 551 558 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, E. M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N. M., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjærgaard, S., Tümer, Z. & Kleefstra, T., 2014, In : Human Genetics. 133, 5, p. 625-638

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2013
  22. Published

    Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

    Schönewolf-Greulich, B., Ravn, K., Hamborg-Petersen, B., Brøndum-Nielsen, K. & Tümer, Z., Sep 2013, In : American Journal of Medical Genetics. Part A. 161, 9, p. 2358-62 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2012
  24. Published

    De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

    Becker, K., Di Donato, N., Holder-Espinasse, M., Andrieux, J., Cuisset, J-M., Vallée, L., Plessis, G., Jean, N., Delobel, B., Thuresson, A-C., Annerén, G., Ravn, K., Tümer, Z., Tinschert, S., Schrock, E., Jønch, A. E. & Hackmann, K., 2012, In : European Journal of Medical Genetics. 55, 8-9, p. 490-7 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

    Ravn, K., Lindquist, S. G., Brøndum-Nielsen, K., Dahm, T. L. & Tümer, Z., 2012, In : Clinical Genetics. 82, 3, p. 292-4 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

    Grillo, E., Villard, L., Clarke, A., Ben Zeev, B., Pineda, M., Bahi-Buisson, N., Hryniewiecka-Jaworska, A., Bienvenu, T., Armstrong, J., Roche-Martinez, A., Mari, F., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A-M., Mejaški Bošnjak, V., Polgár, N., Cogliati, F., Ravn, K., Pintaudi, M., Melegh, B., Craiu, D., Djukic, A. & Renieri, A., 2012, In : Human Mutation. 33, 7, p. 1031-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2011
  28. Published

    Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

    Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K. & Petersen, M. B., Nov 2011, In : American Journal of Medical Genetics. Part A. 155A, 11, p. 2841-54 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Three new loci for determining x chromosome inactivation patterns

    Bertelsen, B., Tümer, Z. & Ravn, K., Sep 2011, In : The Journal of molecular diagnostics : JMD. 13, 5, p. 537-40 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    Grønskov, K., Poole, R. L., Hahnemann, J. M. D., Thomson, J., Tümer, Z., Brøndum-Nielsen, K., Murphy, R., Ravn, K., Melchior, L., Dedic, A., Dolmer, B. S., Temple, I. K., Boonen, S. E. & Mackay, D. J. G., May 2011, In : Journal of Medical Genetics. 48, 5, p. 308-11 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome?

    Boonen, S. E., Hoffmann, A. L., Donnai, D., Tümer, Z. & Ravn, K., 22 Jan 2011, In : European Journal of Medical Genetics. 54, 3, p. 374-5 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36882394