Niels Tommerup

Niels Tommerup

Professor, dr.med., Professor


Publication year:
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1 - 10 out of 12Page size: 10
  1. 2001
  2. Published

    A translocation breakpoint cluster disrupts the newly defined 3´end of the SNURF-SNRPN transcription unit on chromosome 15

    Wirth, J., Back, E., Hüttenhofer, A., Nothwang, H. G., Lich, C., Gross, S., Menzel, C., Schinzel, A., Kioschis, P., Tommerup, Niels, Ropers, H. H., Horsthemke, B. & Buiting, K., 2001, In: Human Molecular Genetics. 10, p. 201-210

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

  3. Published

    DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

    Ehrlich, M., Buchanan, K. L., Tsien, F., Jiang, G., Sun, B., Uicker, W., Weemaes, C. M., Smeets, D., Sperling, K., Belohradsky, B. H., Tommerup, Niels, Misek, D. E., Rouillard, J. M., Kuick, R. & Hanash, S. M., 2001, In: Hum. Mol. Genet.. vol. 10, p. 2917-2931

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

  4. Published

    Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B-cell malignancies using end-sequenced probes

    Silahtaroglu, Asli, Poulsen, T., Giselø, C., Gaarsdal, E., Rasmussen, T. R., Tommerup, Niels & Johnsen, H. J., 2001, In: Genes, Chromosomes & Cancer. 32, 3, p. 265-274 10 p.

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

  5. Published

    Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

    Nothwang, H. G., Kim, H. G., Aoki, J., Geisterfer, M., Kübart, S., Wegner, R. D., van Moers, A., Ashworth, L. K., Haaf, T., Bell, J. E., Arai, H., Tommerup, Niels, Ropers, H. H. & Wirth, J., 2001, In: Human Molecular Genetics. 10, 8, p. 797-806

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

  6. Published

    Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree

    Kitsos, G., Eiberg, Hans Rudolf Lytchoff, Economou-Petersen, E., Wirtz, M. K., Kramer, P. L., Aspiotis, M., Tommerup, Niels, Petersen, M. B. & Psilas, K., 2001, In: European Journal of Human Genetics. 9, 6, p. 452-457

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

  7. Published

    Human FATE is a novel X-linked gene expressed in fetal and adult testis

    Olesen, C., Larsen, N. J., Byskov, A. G., Harboe, T. L. & Tommerup, Niels, 2001, In: Molecular and Cellular Endocrinology. 184, 1-2, p. 25-32

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

  8. Published

    Identifacion of human candidate genes for male infertility by digital differential display

    Olesen, C., Hansen, C., Bendsen, E., Byskov, A. G., Schwinger, E., Lopez-Pajares, I., Jensen, P. K. A., Kristoffersson, U., Schubert, R., Van Assche, E., Wahlstroem, J., Lespinasse, J. & Tommerup, Niels, 2001, In: Molecular Human Reproduction. 7, 1, p. 11-20

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

  9. Published

    Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.

    Rendtorff, N. D., Frödin, Morten, Attié-Bitach, T., Vekemans, M. & Tommerup, Niels, 2001, In: Genomics. 71, 1, p. 40-52 12 p.

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

  10. Published

    MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chomosome inactivation pattern

    Nielsen, J. B., Henriksen, K. F., Hansen, C., Silahtaroglu, Asli, Schwartz, M. & Tommerup, Niels, 2001, In: European Journal of Human Genetics. 9, 3, p. 178-184

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

  11. Published

    Menneskets genetiske variation og sygdomme

    Tommerup, Niels, 2001, In: Ugeskrift for læger. 163, 12, p. 1711

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

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