Niels Tommerup

Research output

Research output per year 1985 1997 1998 1999 2001 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019

• 242 Journal article
• 4 Conference abstract in journal
• 3 Letter
• 2 Book chapter
• 7 More
  • 1 Book
  • 1 Report
  • 1 Conference abstract in proceedings
  • 1 Conference abstract for conference
  • 1 Comment/debate
  • 1 Review
  • 1 Working paper

Research output per year

Research output per year

Search results

• 2001

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

  Kitsos, G., Eiberg, H. R. L., Economou-Petersen, E., Wirtz, M. K., Kramer, P. L., Aspiotis, M., Tommerup, N., 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

  26 Citations (Scopus)

• 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, N., 2001, In: Molecular and Cellular Endocrinology. 184, 1-2, p. 25-32

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

  21 Citations (Scopus)

• 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, N., 2001, In: Molecular Human Reproduction. 7, 1, p. 11-20

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

  50 Citations (Scopus)

• 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, M., Attié-Bitach, T., Vekemans, M. & Tommerup, N., 2001, In: Genomics. 71, 1, p. 40-52 12 p.

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

  • Inner Ear 100%
  • Melanoma 76%
  • Genes 37%
  • Cochlea 35%
  • In Situ Hybridization 15%
  21 Citations (Scopus)

• 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, A. N., Schwartz, M. & Tommerup, N., 2001, In: European Journal of Human Genetics. 9, 3, p. 178-184

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

  57 Citations (Scopus)

• Menneskets genetiske variation og sygdomme

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

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

• Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

  Borck, G., Wirth, J., Hardt, T., Tönnies, H., Brøndum-Nielsen, K., Bugge, M., Tommerup, N., Nothwang, H. G., Ropers, H. H. & Haaf, T., 2001, In: Journal of Medical Genetics. 38, 2, p. 117-121

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

  11 Citations (Scopus)

• The human hedgehog-interacting protein gene: Structure and chromosome mapping to 4q31.21¿q31.3

  Bak, M., Hansen, C., Henriksen, K. F. & Tommerup, N., 2001, In: Cytogenetic and Genome Research. 92, 3-4, p. 300-303

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

  27 Citations (Scopus)
• 2000

  Assignment¹ of the human zinc finger gene, ZNF288, to chromosome 3 band q 13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.

  Harboe, T. L., Tümer, Z. A., Hansen, C., Jensen, N. A. & Tommerup, N., 2000, In: Cytogenetic and Genome Research. 89, p. 156-157

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

• Assignment¹ of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33¿q23.

  Rendtorff, N. D., Vissing, H., Tümer, Z. A., Silahtaroglu, A. N. & Tommerup, N., 2000, In: Cytogenetic and Genome Research. 89, p. 279-280

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

• Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

  Bugge, M., Bruun-Petersen, G., Brøndum-Nielsen, K., Friedrich, U., Hansen, J., Jensen, G., Jensen, P. K. A., Kristoffersson, U., Lundsteen, C., Niebuhr, E., Rasmussen, K. R., Rasmussen, K. & Tommerup, N., 2000, In: Journal of Medical Genetics. 37, 11, p. 858-865

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

• High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

  Kirchhoff, M., Rose, H., Maahr, J., Gerdes, T., Bugge, M., Tommerup, N., Tümer, Z. A., Lespinasse, J., Jensen, P. K. A., Wirth, J. & Lundsteen, C., 2000, In: European Journal of Human Genetics. 8, 9, p. 661-668

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

  46 Citations (Scopus)

• Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X; autosome translocations

  Northwang, H. G., Schröer, A., van der Maarel, S., Kübert, S., Schneider, S., Riesselmann, L., Menzel, C., Hinzmann, B., Vogt, D., Rosenthal, A., Fryns, J-P., Tommerup, N., Haaf, T., Ropers, H. H. & Wirth, J., 2000, In: Cytogenetic and Genome Research. 90, 1-2, p. 126-133

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

  4 Citations (Scopus)

• Sekventeringen af det første kromosom hos mennesket.

  Tommerup, N., 2000, In: Ugeskrift for læger. 162, 12, p. 1710

  Research output: Contribution to journal › Journal article › Research › peer-review
• 1999

  A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different

  Bondurand, N., Kuhlbrodt, K., Pingault, V., Enderich, J., Sajus, M., Tommerup, N., Warburg, M., Hennekam, R. C., Read, A. P., Wegner, M. & Goossens, M., 1999, In: Human Molecular Genetics. 8, p. 1785-1789

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

  92 Citations (Scopus)

• Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

  Xu, G-L., Bestor, T. H., Bourc'his, D., Hsieh, C-L., Tommerup, N., Bugge, M., Hulten, M., Qu, X., Russo, J. J. & Viegas-Péquignot, E., 1999, In: Nature. 402, 6758, p. 187-191

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

  925 Citations (Scopus)

• Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability

  Jacobsen, J., Nielsen, E. B., Brøndum-Nielsen, K., Christensen, M. E., Olin, H-B. D., Tommerup, N. & Rassing, M. R., 1999, In: European Journal of Oral Sciences. 107, 2, p. 138-146

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

  54 Citations (Scopus)

• Hormonforstyrrende kemikaliers indvirkning på udviklingen af kønsorganer og kønsceller i mus og svin

  Byskov, A. G., Kristensen, K., Andersen, C. Y., Nielsen, M., Olesen, C. & Tommerup, N., 1999, In: Miljøforskning. 40, p. 42-46

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

• Klinisk Genetik. Et nyt tværgående grundspeciale

  Lundsteen, C., Bolund, L. A., Gerdes, A-M. A., Goldstein, H., Kølvraa, S., Petersen, G. B., Skovby, F., Sørensen, S. A. & Tommerup, N., 1999

  Research output: Book/Report › Report › Research

• Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

  Silahtaroglu, A. N., Hol, F. A., Jensen, P. K. A., Erdel, M., Duba, H-C., Geurds, M. P. A., VAM Knoers, N., Mariman, E. C. M., Tümer, Z. A., Utermann, G., Wirth, J., Bugge, M. & Tommerup, N., 1999, In: European Journal of Human Genetics. 7, 1, p. 68-76

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

  17 Citations (Scopus)

• PCR-based screening of YAC clones without DNA extraction

  Hansen, C., Henriksen, K. F., Rendtorff, N. D., Moestrup, S. K. & Tommerup, N., 1999, In: Elsevier trends journals technical tips online. 01581, p. 1-4

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

• Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1

  Madsen, P., Anant, S., Rasmussen, H. H., Gromov, P. S., Vorum, H., Dumanski, J. P., Tommerup, N., Collins, J. E., Wright, CL., Dunham, I., MacGinnitie, A. J., Davidson, N. O. & Celis, J. E., 1999, In: Journal of Investigative Dermatology. 113, p. 162-169

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

  42 Citations (Scopus)

• Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity

  Echwald, S. M., Sørensen, TIA., Andersen, T., Hansen, C., Tommerup, N. & Pedersen, O., 1999, In: Obesity Research. 7, 6, p. 532-536

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

  31 Citations (Scopus)

• Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1

  Johnstone, R. W., Tommerup, N., Hansen, C., Vissing, H. & Shi, Y., 1999, In: Immunogenetics. 49, 10, p. 900-5 5 p.

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

  1 Citation (Scopus)

• Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

  Wirth, J., Nothwang, H. G., van der Maarel, S., Menzel, C., Borck, G., Lopez-Pajares, I., Brøndum-Nielsen, K., Tommerup, N., Bugge, M., Ropers, H. H. & Haaf, T., 1999, In: Journal of Medical Genetics. 36, 4, p. 271-8 7 p.

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

  • Fluorescence In Situ Hybridization 100%
  • Intellectual Disability 93%
  • Chromosomes 78%
  • Cytogenetics 54%
  • Genes 39%
  83 Citations (Scopus)
• 1998

  A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores

  Wandall, A., Tranebjaerg, L. & Tommerup, N., 1998, In: Chromosoma. 107, 6-7, p. 359-65 6 p.

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

  • Satellite DNA 100%
  • Chromosomes, Human, Pair 3 86%
  • Kinetochores 86%
  • Human Chromosomes 75%
  • anticentromere antibody 54%
  37 Citations (Scopus)

• BAP1: A novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression

  Jensen, D. E., Proctor, M., Marquis, S. T., Gardner, H. P., Ha, S. I., Chodosh, L. A., Ishov, A. M., Tommerup, N., Vissing, H., Sekido, Y., Minna, J., Borodovsky, A., Schultz, D. C., Wilkinson, K. D., Maul, G. G., Barlev, N., Berger, S. L., Prendergast, G. C. & Rauscher III, F. J., 1998, In: Oncogene. 16, p. 1097-1112

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

  523 Citations (Scopus)

• Ciao 1 Is a Novel WD40 Protein That Interacts with the Tumor Suppressor Protein WT1

  Johnstone, R. W., Wang, J., Tommerup, N., Vissing, H., Roberts, T. & Shi, Y., 1998, In: Journal of Biological Chemistry. 273, 18, p. 10880-10887

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

  56 Citations (Scopus)

• Human rab11a: transcription, chromosome mapping and effect on the expression levels of host GTP-binding proteins

  Gromov, P. S., Celis, J. E., Hansen, C., Tommerup, N., Gromova, I. & Madsen, P., 1998, In: FEBS Letters. 429, 3, p. 359-64 5 p.

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

  • Chromosome Mapping 100%
  • GTP-Binding Proteins 81%
  • Complementary DNA 65%
  • Polyadenylation 51%
  • Monomeric GTP-Binding Proteins 47%
  13 Citations (Scopus)

• Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1

  Rendtorff, N. D., Hansen, C., Silahtaroglu, A., Henriksen, K. F. & Tommerup, N., 1998, In: Genomics. 53, 1, p. 114-6 2 p.

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

  5 Citations (Scopus)

• Kinetochore presence and kinetochore loss in human marker chromosomes

  Wandall, A. & Tommerup, N., 1998, Chromosome Segregation and Aneuploidy. University of Nevada, Reno, USA

  Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research

• Mapping of the human PAWR (par-4) gene to chromosome 12q21

  Johnstone, R. W., Tommerup, N., Hansen, C., Vissing, H. & Shi, Y., 1998, In: Genomics. 53, 2, p. 241-3 2 p.

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

  35 Citations (Scopus)

• Not para-, not peri-, but centric inversion of chromosome 12

  Silahtaroglu, A. N., Hacihanefioglu, S., Güven, G. S., Cenani, A., Wirth, J., Tommerup, N. & Tümer, Z., 1998, In: Journal of Medical Genetics. 35, 8, p. 682-4 2 p.

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

  • Chromosomes, Human, Pair 12 100%
  • Fluorescence In Situ Hybridization 75%
  • Chromosomes 59%
  • Klinefelter Syndrome 51%
  • Cytogenetic Analysis 43%
  9 Citations (Scopus)

• Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities

  Hasle, H., Olsen, J. H., Hansen, J., Friedrich, U. & Tommerup, N., 1998, In: Cancer Genetics and Cytogenetics. 105, 1, p. 39-42 3 p.

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

  • Chromosomes, Human, Pair 7 100%
  • Chromosome Aberrations 75%
  • Williams Syndrome 27%
  • Neoplasms 25%
  • Hematologic Neoplasms 19%
  26 Citations (Scopus)

• The Human Intrinsic Factor-Vitamin B*U12 Receptor, Cubilin: Molecular Characterization and Chromosomal Mapping of the Gene to 10p Within the Autosomal Recessive Megaloblastic Anemia (MGA1) Region

  Kozyraki, R., Kristiansen, M., Silahtaroglu, A. N., Hansen, C., Jacobsen, C., Tommerup, N., Verroust, P. J. & Moestrup, S. K., 1998, In: Blood. 91, 10, p. 3593-3600

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

  131 Citations (Scopus)
• 1997

  A somatic cell hybrid panel for distal 17q: GD1A1 maps to 17q25.3

  Wagner, T., Tommerup, N., Leffers, H., Zimmer, J., Back, E., Weissenbach, J. & Scherer, G., 1997, In: Cytogenetic and Genome Research. 76, p. 172-175

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

  9 Citations (Scopus)

• Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

  Schulze, A., Hansen, C., Baekgaard, P., Blichfeldt, S., Petersen, M. B., Tommerup, N. & Brøndum-Nielsen, K., 1997, In: Acta Paediatrica. 86, 8, p. 906-10 4 p.

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

  • Psychological Imprinting 100%
  • Prader-Willi Syndrome 94%
  • Molecular Biology 56%
  • Trisomy mosaicism Chromosome 15 42%
  • Chromosomes, Human, Pair 15 31%
  5 Citations (Scopus)

• Identification of positional candidates for neurological disorders on chromosome 13q14-q22

  Nothwang, H. G., Wirth, J., Brandl, B., Haaf, T., Nielsen, K. B., Tommerup, N. & Ropers, H. H., 1997, In: Cytogenetic and Genome Research. 79, 3-4, p. 293-297

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

  2 Citations (Scopus)

• Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

  Riise, R., Andreasson, S., Borgström, M. K., Wright, A. F., Tommerup, N., Rosenberg, T. & Tornqvist, K., 1997, In: British Journal of Ophthalmology. 81, 5, p. 378-385

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

  51 Citations (Scopus)

• Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

  Brøndum-Nielsen, K., Beck, B., Gyftodimou, J., Hørlyk, H., Liljenberg, U., Petersen, M. B., Pedersen, W., Petersen, M. B., Sand, A., Skovby, F., Stafanger, G., Zetterqvist, P. & Tommerup, N., 1997, In: Human Genetics. 99, 1, p. 56-61 5 p.

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

  • Williams Syndrome 100%
  • Fluorescence In Situ Hybridization 71%
  • Elastin 50%
  • DNA 39%
  • Gene Deletion 30%
  24 Citations (Scopus)

• Linkage Mapping in 29 Bardet-Biedl Syndrome Families Confirms Loci in chromosomal Regions 11q13, 15q22.3 -q23-q23, and 16q21

  Bruford, E. A., Riise, R., Teaque, P. W., Porter, K., Thomson, K. L., Moore, A. T., Jay, M., Warburg, M., Schnzel, A., Tommerup, N., Tornqvist, K., Rosenberg, T., Patton, M., Mansfield, D. C. & Wright, A. F., 1997, In: Genomics. 41, 1, p. 93-99

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

  106 Citations (Scopus)

• Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma.

  Helin, K., Holm, K., Niebuhr, A., Eiberg, H., Tommerup, N., Hougaard, S., Poulsen, H. S., Spang-Thomsen, M. & Norgaard, P., 1997, In: Proceedings of the National Academy of Science of the United States of America. 94, 13, p. 6933-8 5 p.

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

  • Retinoblastoma Protein 100%
  • Small Cell Lung Carcinoma 87%
  • Point Mutation 30%
  • Proteins 28%
  • DNA Tumor Viruses 25%
  110 Citations (Scopus)

• Medicinsk Genetik. Basisbog. 4. Udgave 1997

  Tommerup, N. (ed.), 1997, København: Handelshøjskolens Forlag.

  Research output: Book/Report › Book › Research › peer-review

• Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography.

  Petersen, C. M., Nielsen, M. S., Nykjaer, A., Rasmussen, H. H., Roigaard, H., Gliemann, J., Madsen, P., Moestrup, S. K. & Tommerup, N., 1997, In: Journal of Biological Chemistry. 272, 6, p. 3599-605 6 p.

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

  • sortilin 100%
  • Affinity Chromatography 65%
  • Low-Density Lipoprotein 35%
  • Brain 30%
  • Protein 25%
  311 Citations (Scopus)

• Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection

  Senger, G., Chudoba, I., Friedrich, U., Tommerup, N., Claussen, U. & Brøndum-Nielsen, K., 1997, In: Prenatal Diagnosis. 17, 4, p. 369-374

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

  22 Citations (Scopus)

• Prolonged extreme thrombocytosis associated with neurofibromatosis type 1

  Hasle, H., Nir, M. & Tommerup, N., 1997, In: Journal of Pediatrics. 130, 2, p. 317-319

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

  6 Citations (Scopus)
• 1996

  Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2-q32.2

  Børglum, A. D., Flint, T., Tommerup, N., Fleckner, J., Justesen, J. & Kruse, T. A., 1996, In: Cytogenetic and Genome Research. 73, p. 99-103

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

• Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

  Schulze, A., Hansen, C., Skakkebæk, N. E., Brøndum-Nielsen, K. & Tommerup, N., 1996, In: Nature Genetics. 12, 4, p. 452-454

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

  61 Citations (Scopus)

• Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein.

  Jacobsen, L., Madsen, P., Moestrup, S. K., Lund, A. H., Tommerup, N., Nykjaer, A., Sottrup-Jensen, L., Gliemann, J. & Petersen, C. M., 1996, In: Journal of Biological Chemistry. 271, 49, p. 31379-83 4 p.

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

  • LDL-Receptor Related Protein-Associated Protein 100%
  • Protein 21%
  • Proteins 19%
  • LDL Receptors 17%
  • Low-Density Lipoprotein 13%
  205 Citations (Scopus)

• No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

  Hofstra, R. M. W., Cheng, N. C., Hansen, C., Stelwagen, T., Clausen, N., Tommerup, N., Caron, H., Westerveld, A., Versteeg, R. & Buys, C. H. C. M., 1996, In: Human Genetics. 97, 3, p. 362-364

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

  23 Citations (Scopus)