Niels Tommerup
Professor, dr.med., Professor
Department of Cellular and Molecular Medicine
Blegdamsvej 3, Building: 22.4.28
2200 2200 København N
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 2007
- Published
A human phenome-interactome network of protein complexes implicated in genetic disorders
Lage, K., Karlberg, E. O., Størling, Z. M., Olason, P. I., Pedersen, A. G., Rigina, O., Hinsby, A. M., Tümer, Asuman Zeynep, Pociot, Flemming, Tommerup, Niels, Moreau, Y. & Brunak, S., 2007, In: Nature Biotechnology. 25, 3, p. 309-16 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements
Bache, Iben, Nielsen, N. M., Rostgaard, K., Tommerup, Niels & Frisch, M., 2007, In: Arthritis and Rheumatism. 56, 7, p. 2402-2409 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome
Ladegaard, E. L. E., Saraiva, J., Carreira, I., Ramos, L., Ropers, H. H., Silva, E., Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: Clinical Genetics. 72, 5, p. 464-470 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Det genetiske grundlag for epilepsi: Dansk Epilepsi Selskab
Hansen, C. P., Møller, R., Tümer, Asuman Zeynep & Tommerup, Niels, 2007, In: Ugeskrift for læger. 169, 12, p. 1102-Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification
Silahtaroglu, Asli, Nolting, D., Andersen, L. D., Berezikov, E., Møller, Morten, Tommerup, Niels & Kauppinen, M. S., 2007, In: Nature Protocols (Print Edition). 2, p. 2520-2528 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
Belloso, J. M., Bache, Iben, Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., Ropers, H. H., Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: European Journal of Human Genetics. 15, 6, p. 711-713 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers
Bache, Iben, Brøndum-Nielsen, K. & Tommerup, Niels, 2007, In: Genetics In Medicine. 9, 3, p. 185-187 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Global gene expression analysis in fetal mouse ovaries with and without meiosis and comparison of selected genes with meiosis in the testis
Olesen, C., Nyeng, P., Kalisz, M., Jensen, T. H., Møller, Morten, Tommerup, Niels & Byskov, A. G., 2007, In: Cell and Tissue Research. 328, 1, p. 207-21 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe
Møller, R. S., Hansen, C. P., Jackson, G. D., Ullmann, R., Ropers, H. H., Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: Clinical Genetics. 72, 6, p. 593-598 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
Kalscheuer, V. M., FitzPatrick, D., Tommerup, Niels, Bugge, M., Niebuhr, E., Neumann, L. M., Tzschach, A., Shoichet, S. A., Menzel, C., Erdogan, F., Arkesteijn, G., Ropers, H. H. & Ullmann, R., 2007, In: Human Genetics. 121, 3-4, p. 501-509 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5189
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Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
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1901
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
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1157
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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
Published