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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published
  3. 2018
  4. Published
  5. Published
  6. Published

    Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

    Tümer, Z., López-Hernández, J. A., Netchine, I., Elbracht, M., Grønskov, K., Gede, L. B., Sachwitz, J., den Dunen, J. T. & Eggermann, T., Mar 2018, In : Human Mutation. 39, 3, p. 345-364

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Lapunzina, P., Le Bouc, Y., Maas, S. M., Macdonald, F., Õunap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skórka, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Grønskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tümer, Z., Eggermann, T., Mackay, D. J. G., Riccio, A. & Maher, E. R., 2018, In : Nature reviews. Endocrinology. 14, p. 229–249

    Research output: Contribution to journalReviewResearchpeer-review

  8. 2017
  9. Published

    Diagnosis and management of Silver-Russell syndrome: first international consensus statement

    Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G. E., Murray, P. G., Ogata, T., Petit, I. O., Russo, S., Said, E., Toumba, M., Tümer, Z., Binder, G., Eggermann, T., Harbison, M. D., Temple, I. K., Mackay, D. J. G. & Netchine, I., 2 Sep 2017, In : Nature reviews. Endocrinology. 13, 2, p. 105-124

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Recent Advances in Imprinting Disorders

    Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., Riccio, A., Linglart, A., Netchine, I. & Eggermann, T., Jan 2017, In : Clinical Genetics. 91, 1, p. 3-13 11 p.

    Research output: Contribution to journalReviewResearchpeer-review

  11. 2016
  12. Published

    Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    Hove, M. N., Kilic-Biyik, K. Z., Trotter, A., Grønskov, K., Sander, B., Larsen, M., Carroll, J., Bech-Hansen, T. & Rosenberg, T., 1 Dec 2016, In : Investigative ophthalmology & visual science. 57, 15, p. 6861-6869 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

    Grønskov, K., Redó-Riveiro, A., Jelveh Sandfeld, L., Zibrandtsen, N., Harris, P., Bach-Holm, D. & Tümer, Z., 4 Nov 2016, In : Journal of Glaucoma. 25, 12, p. 926-930

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

    Roos, L., Jensen, H., Grønskov, K., Holst, R. & Tümer, Z., Oct 2016, In : Ophthalmic Epidemiology. 23, 5, p. 324-30 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A-F., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In : Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

    Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tümer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A., Weksberg, R., Lapunzina, P., Grønskov, K., Mackay, D. J. & Eggermann, T., 11 May 2016, In : European journal of human genetics : EJHG. 24, p. 1377–1387

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Eggermann, T., de Nanclares, G. P., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J. G., Grønskov, K., Riccio, A., Linglart, A. & Netchine, I., 2016

    Research output: Other contributionResearch

  18. Published

    Feasibilty study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

    Gede, L. B., Hahnemann, J. M., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 2016, In : Prenatal Diagnosis. 36, 1, p. 100-103

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

    Bak, M., Boonen, S. E., Dahl, C., Hahnemann, J. M. D., Mackay, D. J. D. G., Tümer, Z., Grønskov, K., Temple, I. K., Guldberg, P. & Tommerup, N., 2016, In : BMC Medical Genetics. 17, p. 29

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

    Eggermann, T., Brioude, F., Russo, S., Lombardi, M. P., Bliek, J., Maher, E. R., Larizza, L., Prawitt, D., Netchine, I., Gonzales, M., Grønskov, K., Tümer, Z., Monk, D., Mannens, M., Chrzanowska, K., Walasek, M. K., Begemann, M., Soellner, L., Eggermann, K., Tenorio, J., Nevado, J., Moore, G. E., Mackay, D. J., Temple, K., Gillessen-Kaesbach, G., Ogata, T., Weksberg, R., Algar, E. & Lapunzina, P., 2016, In : European journal of human genetics : EJHG. 24, p. 784-793

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2015
  22. Published

    Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Eggermann, T., Perez de Nanclares, G., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J. G., Grønskov, K., Riccio, A., Linglart, A. & Netchine, I., 20 Nov 2015, In : Clinical Epigenetics. 7, p. 123

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published
  24. Published

    Case report a novel KERA mutation associated with cornea plana and its predicted effect on protein function

    Roos, L., Bertelsen, B., Harris, P., Bygum, A., Jensen, H., Grønskov, K. & Tümer, Z., 2015, In : BMC Medical Genetics. 16, p. 40

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

    Eggermann, T., Netchine, I., Temple, I. K., Tümer, Z., Monk, D., Mackay, D., Grønskov, K., Riccio, A., Linglart, A. & Maher, E. R., 2015, In : Clinical Epigenetics. 7, 1, p. 23

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Molecular characterization of melanoma cases in denmark suspected of genetic predisposition

    Wadt, K. A. W., Aoude, L. G., Krogh, L., Sunde, L., Bojesen, A., Grønskov, K., Wartacz, N., Ek, J., Andersen, M. T., Andersen, M. K., Borg, Å., Heegaard, S., Kiilgaard, J. F., Hansen, T. V. O., Klein, K., Jönsson, G., Drzewiecki, K. T., Dunø, M., Hayward, N. K. & Gerdes, A-M., 2015, In : P L o S One. 10, 3, p. e0122662

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2014
  28. Published
  29. 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

  30. Published

    Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects

    Rönnbäck, C., Grønskov, K. & Larsen, M., 11 Mar 2014, In : Acta Ophthalmologica. 92, 7, p. 670-74

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    Jønch, A. E., Timshel, S., Lunding, J., Grønskov, K. & Brøndum-Nielsen, K., 24 Feb 2014, In : Ugeskrift for læger [online]. 176, 9A

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

    Roos, L., Fang, M., Dali, C. I., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P. H., XU, X., Grønskov, K. & Tümer, Z., 2014, In : Clinical Genetics. 86, p. 276-81

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Clinical utility gene card for Oculocutaneous albinism

    Grønskov, K., Brøndum-Nielsen, K., Lorenz, B. & Preising, M. N., 2014, In : European journal of human genetics : EJHG. 22, p. e

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Increasing the complexity: new genes and new types of albinism

    Montoliu, L., Grønskov, K., Wei, A-H., Martínez-García, M., Fernández, A., Arveiler, B., Morice-Picard, F., Riazuddin, S., Suzuki, T., Ahmed, Z. M., Rosenberg, T. & Li, W., 2014, In : Pigment Cell & Melanoma Research. 27, 1, p. 11-18

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. 2013
  36. Published

    Genetic testing and counselling in inherited eye disease

    Brøndum-Nielsen, K., Jensen, H., Timshel, S., Grønskov, K. & Larsen, M., 2 Sep 2013, In : Ugeskrift for Laeger. 175, 36, p. 2031-2034 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

    Mertz, L. G. B., Christensen, R. N., Vogel, I., Hertz, J. M., Brøndum-Nielsen, K., Grønskov, K. & Østergaard, J. R., Sep 2013, In : American Journal of Medical Genetics. Part A. 161A, 9, p. 2197-203 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Genomsekventering--klinisk anvendelse

    Hertz, J. M., Gerdes, A-M., Grønskov, K., Thomassen, M. & Vogel, I., 18 Mar 2013, In : Ugeskrift for Laeger. 175, 12, p. 818

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Mutations in C10orf11, Encoding a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

    Grønskov, K., Dooley, C. M., Ostergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L. & Rosenberg, T., 2013, In : American Journal of Human Genetics. 92, 3, p. 415-421

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

    Boonen, S. E., Mackay, D. J. G., Hahnemann, J. M. D., Docherty, L., Grønskov, K., Lehmann, A., Larsen, L. G., Haemers, A. P., Kockaerts, Y., Dooms, L., Vu, D. C., Ngoc, C. T. B., Nguyen, P. B., Kordonouri, O., Sundberg, F., Dayanikli, P., Puthi, V., Acerini, C., Massoud, A. F., Tümer, Z. & Temple, I. K., 2013, In : Diabetes Care. 36, 3, p. 505-12 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 2012
  42. Published

    A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

    Schatz, P., Bregnhøj, J., Arvidsson, H. S., Sharon, D., Mizrahi-Meissonnier, L., Sander, B., Grønskov, K. & Larsen, M., 2012, In : Molecular Vision. 18, p. 1147-55 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Absence of NR2E1 mutations in patients with aniridia

    Corso-Díaz, X., Borrie, A. E., Bonaguro, R., Schuetz, J. M., Rosenberg, T., Jensen, H., Brooks, B. P., Macdonald, I. M., Pasutto, F., Walter, M. A., Grønskov, K., Brooks-Wilson, A. & Simpson, E. M., 2012, In : Molecular Vision. 18, p. 2770-82 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

    Roos, L. S., Grønskov, K., Jensen, H. & Tümer, Z., 2012, In : Ugeskrift for Laeger. 174, 11, p. 713-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

    Almind, G. J., Ek, J., Rosenberg, T., Eiberg, H. R. L., Larsen, M., Lucamp, L., Brøndum-Nielsen, K. & Grønskov, K., 2012, In : B M C Medical Genetics. 13, p. 65

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    Boonen, S. E., Hahnemann, J. M. D., Mackay, D., Tommerup, N., Brøndum-Nielsen, K., Tümer, Z. & Grønskov, K., 2012, In : European Journal of Human Genetics. 20, 1, p. 119-21 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

    Tümer, Z., Bertelsen, B., Gredal, O., Magyari, M., Nielsen, K. C., Lucamp, Grønskov, K. & Brøndum-Nielsen, K., 2012, In : Neurobiology of Aging. 33, 1, p. 208.e1-5

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

    Sitarz, K. S., Almind, G. J., Horvath, R., Czermin, B., Grønskov, K., Pyle, A., Taylor, R. W., Larsen, M., Chinnery, P. F. & Yu-Wai-Man, P., 2012, In : Neurology. 79, 14, p. 1515-7 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. 2011
  50. 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

  51. Published

    A nonsense mutation in FMR1 causing fragile X syndrome

    Grønskov, K., Brøndum-Nielsen, K., Dedic, A. & Hjalgrim, H., Apr 2011, In : European journal of human genetics : EJHG. 19, 4, p. 489-91 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. 2010
  53. 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

  54. 1993
  55. Expression of insulin receptor spliced variants and their functional correlates in muscle from patients with non-insulin-dependent diabetes mellitus

    Hansen, T., Bjørbaek, C., Vestergaard, H., Grønskov, K., Bak, J. F. & Pedersen, O., Dec 1993, In : The Journal of clinical endocrinology and metabolism. 77, 6, p. 1500-5 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36882980