Zeynep Tümer
Clinical Professor
- 2003
- Published
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
Tümer, Asuman Zeynep, Møller, L. B. & Horn, L., 2003, In: Hum. Mutat.. Vol. 22, p. 457-464Research output: Contribution to journal › Journal article › Research › peer-review
- 2002
- Published
Assignment(1) of Zfp 100 to murine chromosome 4 band D3/E1 with radiation hybrid mapping
Harboe, T. L., Tommerup, Niels & Tümer, Asuman Zeynep, 2002, In: Cytogenetic and Genome Research. vol. 97, p. 276Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Expression profiling in Menkes disease
Tümer, Asuman Zeynep, Horn, N. & Jensen, L. R., 2002, Handbook of Copper Pharmacology and Toxicology. New Jersey: Humana Press, p. 343-356Research output: Chapter in Book/Report/Conference proceeding › Report chapter › Research
- Published
Genomic structure, chromosome mapping and expression analysis of the human A VIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2)
Tümer, Asuman Zeynep, Croucher, P. J., Jensen, L. R., Hampe, J., Hansen, C., Kalscheuer, V. M., Ropers, H. H., Tommerup, Niels & Schreiber, S., 2002, In: Gene. vol. 288, p. 179-185Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Menkes disease and the occipital horn syndrome
Horn, N. & Tümer, Asuman Zeynep, 2002, Connecitive Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. 2nd. edition. New York: Wiley, p. 651-685Research output: Chapter in Book/Report/Conference proceeding › Report chapter › Research
- 2000
- Published
Assignment1 of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33¿q23.
Rendtorff, N. D., Vissing, H., Tümer, Asuman Zeynep, Silahtaroglu, Asli & Tommerup, Niels, 2000, In: Cytogenetic and Genome Research. 89, p. 279-280Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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, Asuman Zeynep, Hansen, C., Jensen, N. A. & Tommerup, Niels, 2000, In: Cytogenetic and Genome Research. 89, p. 156-157Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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, Niels, Tümer, Asuman Zeynep, Lespinasse, J., Jensen, P. K. A., Wirth, J. & Lundsteen, C., 2000, In: European Journal of Human Genetics. 8, 9, p. 661-668Research output: Contribution to journal › Journal article › Research › peer-review
- 1999
- Published
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome
Silahtaroglu, Asli, Hol, F. A., Jensen, P. K. A., Erdel, M., Duba, H., Geurds, M. P. A., VAM Knoers, N., Mariman, E. C. M., Tümer, Asuman Zeynep, Utermann, G., Wirth, J., Bugge, M. & Tommerup, Niels, 1999, In: European Journal of Human Genetics. 7, 1, p. 68-76Research output: Contribution to journal › Journal article › Research › peer-review
- 1998
- Published
Not para-, not peri-, but centric inversion of chromosome 12
Silahtaroglu, Asli, Hacihanefioglu, S., Güven, G. S., Cenani, A., Wirth, J., Tommerup, Niels & Tümer, Asuman Zeynep, 1998, In: Journal of Medical Genetics. 35, 8, p. 682-4 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
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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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1894
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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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1155
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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