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The Capital Region of Denmark - a part of Copenhagen University Hospital

European Journal of Medical Genetics, ‎1769-7212

Journal

  1. 2022
  2. E-pub ahead of print

    von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

    Louise M Binderup, M., Smerdel, M., Borgwadt, L., Beck Nielsen, S. S., Madsen, M. G., Møller, H. U., Kiilgaard, J. F., Friis-Hansen, L., Harbud, V., Cortnum, S., Owen, H., Gimsing, S., Friis Juhl, H. A., Munthe, S., Geilswijk, M., Rasmussen, Å. K., Møldrup, U., Graumann, O., Donskov, F., Grønbæk, H. & 11 others, Stausbøl-Grøn, B., Schaffalitzky de Muckadell, O., Knigge, U., Dam, G., Wadt, K. A., Bøgeskov, L., Bagi, P., Lund, L., Stochholm, K., Ousager, L. B. & Sunde, L., 13 Jun 2022, (E-pub ahead of print) In: European Journal of Medical Genetics. 65, 8, p. 104538

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2021
  4. Published

    Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

    extended ERN-GENTURIS Thematic Group 3 & Wadt, K., Dec 2021, In: European Journal of Medical Genetics. 64, 12, p. 104350 104350.

    Research output: Contribution to journalReviewResearchpeer-review

  5. Published

    First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

    Alstrup, M., Marks, S. D., Ek, J., Buchvald, F., Lund, T. K., Perch, M., Waters, A. M., Mogensen, M. & Jelsig, A. M., Nov 2021, In: European Journal of Medical Genetics. 64, 11, p. 104335 104335.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N. & Østergaard, E., Oct 2021, In: European Journal of Medical Genetics. 64, 10, p. 104306 104306.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

    Moldenæs, M. F., Rendtorff, N. D., Hindbæk, L. S., Tørring, P. M., Nilssen, Ø. & Tranebjærg, L., Sep 2021, In: European Journal of Medical Genetics. 64, 9, p. 104265 104265.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

    Faergeman, S. L., Bojesen, A. B., Rasmussen, M., Becher, N., Andreasen, L., Andersen, B. N., Erbs, E., Lildballe, D. L., Nielsen, J. E. K., Zilmer, M., Hammer, T. B., Andersen, M. Ø., Brasch-Andersen, C., Fagerberg, C. R., Illum, N. O., Thorup, M. B. & Gregersen, P. A., Sep 2021, In: European Journal of Medical Genetics. 64, 9, p. 1-6 6 p., 104280.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2020
  10. Published

    Unique skeletal manifestations in patients with Primrose syndrome

    Arora, V., Leon, E., Diaz, J., Hove, H. B., Carvalho, D. R., Kurosawa, K., Nishimura, N., Nishimura, G., Saxena, R., Ferreira, C., Puri, R. D. & Verma, I. C., Aug 2020, In: European Journal of Medical Genetics. 63, 8, p. 103967

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome

    Smerdel, M. P., Skytte, A-B., Jelsig, A. M., Ebbehøj, E. & Stochholm, K., May 2020, In: European Journal of Medical Genetics. 63, 5, p. 103873 103873.

    Research output: Contribution to journalReviewResearchpeer-review

  12. Published

    Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, A., Birkebæk, N. H., Hartmann-Petersen, R., Lindorff-Larsen, K., Højland, A. T., Petersen, M. B. & Tranebjærg, L., Mar 2020, In: European Journal of Medical Genetics. 63, 3, 103733.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 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

  14. Published

    Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum-Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., Rasmussen, L., Backman, T., Hansen, L. K., Larsen, A. R., Petersen, H. & Detlefsen, S., Jan 2020, In: European Journal of Medical Genetics. 63, 1, p. 103632

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2019
  16. Published

    Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Vaeth, S., Christensen, R., Dunø, M., Lildballe, D. L., Thorsen, K., Vissing, J., Svenstrup, K., Hertz, J. M., Andersen, H. & Jensen, U. B., Jan 2019, In: European Journal of Medical Genetics. 62, 1, p. 1-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 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

  18. 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 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2018
  20. Published

    Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

    Bayat, A., Bayat, M., Lozoya, R. & Schaaf, C. P., 1 Sep 2018, In: European Journal of Medical Genetics. 61, 10

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome

    Bayat, A., Kirchhoff, M., Madsen, C. G. & Kreiborg, S., 1 Aug 2018, In: European Journal of Medical Genetics. 61, 8, p. 473-477

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 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

  23. 2017
  24. Published

    Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

    Jelsig, A. M., Urban, Z., Hucthagowder, V., Nissen, H. & Ousager, L. B., Feb 2017, In: European Journal of Medical Genetics. 60, 2, p. 110-113 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2016
  26. Published

    Treatment-related toxicities in children with acute lymphoblastic leukaemia predisposition syndromes

    Schmiegelow, K., 11 Feb 2016, In: European Journal of Medical Genetics. 59, 12, p. 654-660

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2015
  28. Published

    Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family

    Duong, L. T., Hoeffding, L. K., Petersen, K., Knudsen, H. C., Thygesen, J. H., Klitten, L. L., Tommerup, N., Ingason, A. & Werge, T., 9 Nov 2015, In: European Journal of Medical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Maas, S. M., Shaw, A. C., Bikker, H., Lüdecke, H-J., van der Tuin, K., Badura-Stronka, M., Belligni, E., Biamino, E., Bonati, M. T., Carvalho, D. R., Cobben, J., de Man, S. A., Den Hollander, N. S., Di Donato, N., Garavelli, L., Grønborg, S., Herkert, J. C., Hoogeboom, A. J. M., Jamsheer, A., Latos-Bielenska, A. & 27 others, Maat-Kievit, A., Magnani, C., Marcelis, C., Mathijssen, I. B., Nielsen, M., Otten, E., Ousager, L. B., Pilch, J., Plomp, A., Poke, G., Poluha, A., Posmyk, R., Rieubland, C., Silengo, M., Simon, M., Steichen, E., Stumpel, C., Szakszon, K., Polonkai, E., van den Ende, J., van der Steen, A., van Essen, T., van Haeringen, A., van Hagen, J. M., Verheij, J. B. G. M., Mannens, M. M. & Hennekam, R. C., May 2015, In: European Journal of Medical Genetics. 58, 5, p. 279-92 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2014
  31. Published

    Genetics of congenital hypogonadotropic hypogonadism in Denmark

    Tommiska, J., Känsäkoski, J., Christiansen, P., Jørgensen, N., Lawaetz, J. G., Juul, A. & Raivio, T., Jul 2014, In: European Journal of Medical Genetics. 57, 7, p. 345-8 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 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

  33. 2013
  34. Published

    Heart defects and other features of the 22q11 distal deletion syndrome

    Fagerberg, C. R., Graakjaer, J., Heinl, U. D., Ousager, L. B., Dreyer, I., Kirchhoff, E. M., Rasmussen, A., Lautrup, C. K., Birkebaek, N. & Sorensen, K., 2013, In: European Journal of Medical Genetics. 56, 2, p. 98-107 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. 2012
  36. 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

  37. Published

    Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

    Kroeldrup, L., Kjaergaard, S., Kirchhoff, E. M., Kock, K. F., Brasch-Andersen, C., Kibaek, M. & Ousager, L. B., 2012, In: European Journal of Medical Genetics. 55, 10, p. 557-60 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    Yuca, S. A., Rendtorff, N. D., Boulahbel, H., Lodahl, M., Tranebjærg, L., Cesur, Y., Dogan, M., Yilmaz, C., Akgun, C. & Acikgoz, M., 2012, In: European Journal of Medical Genetics. 55, 1, p. 37-42

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2011
  40. Published

    Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    Gilling, M., Lind-Thomsen, A., Mang, Y., Bak, M., Møller, M., Ullmann, R., Kristoffersson, U., Kalscheuer, V. M., Henriksen, K. F., Bugge, M., Tümer, Z. & Tommerup, N., 24 Mar 2011, In: European Journal of Medical Genetics. 54, 4, p. e383-8

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 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

  42. Published

    Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

    Wohlleber, E., Kirchhoff, E. M., Zink, A. M., Kreiss-Nachtsheim, M., Küchler, A., Jepsen, B., Kjaergaard, S. & Engels, H., 2011, In: European Journal of Medical Genetics. 54, 1, p. 67-72 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2010
  44. Published

    Predictive factors for familiality in a Danish clinical cohort of children with Tourette syndrome

    Debes, N. M. M. M., Hjalgrim, H. & Skov, L., 2010, In: European Journal of Medical Genetics. 53, 4, p. 171-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. 2008
  46. Published
  47. 2007
  48. Published
  49. Published

    Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

    Bisgaard, A-M., Kirchhoff, M., Nielsen, J. E., Brandt, C., Hove, H., Jepsen, B., Jensen, T., Ullmann, R. & Skovby, F., 2007, In: European Journal of Medical Genetics. 50, 4, p. 243-55 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 7939