Zeynep Tümer
Clinical Professor
- 2008
- Published
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Gilling, M., Lauritsen, M. B., Møller, Morten, Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, Hans Rudolf Lytchoff, Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H., Ullmann, R., Bache, Iben, Tümer, Asuman Zeynep & Tommerup, Niels, 2008, In: European Journal of Human Genetics. 16, 3, p. 312-9 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
Møller, R. S., Schneider, L. M., Hansen, C. P., Bugge, M., Ullmann, R., Tommerup, Niels & Tümer, Asuman Zeynep, 2008, In: Epilepsia. 49, 6, p. 1091-1094 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly
Erdogan, F., Belloso, J. M., Gabau, E., Ajbro, K. D., Guitart, M., Ropers, H. H., Tommerup, Niels, Ullmann, R., Tümer, Asuman Zeynep & Larsen, Lars Allan, 2008, In: European Journal of Medical Genetics. 51, 1, p. 81-6 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells
Vestergaard, J., Lind-Thomsen, A., Pedersen, M. W., Jarmer, H. O., Bak, M., Hasholt, Lis Frydenreich, Tommerup, Niels, Tümer, Asuman Zeynep & Larsen, Lars Allan, 2008, In: DNA and Cell Biology. 27, 5, p. 251-U16Research output: Contribution to journal › Journal article › Research › peer-review
- Published
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
Erdogan, F., Larsen, Lars Allan, Zhang, L., Tümer, Asuman Zeynep, Tommerup, Niels, Chen, W., Jacobsen, J. R., Schubert, M., Jurkatis, J., Tzschach, A., Ropers, H. & Ullmann, R., 2008, In: Journal of Medical Genetics. 45, 11, p. 704-709 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Investigation of 4q-deletion in two unrelated patients using array CGH
Kaalund, S. S., Møller, R. S., Teszas, A., Miranda, M., Kosztolanyi, G., Ullmann, R., Tommerup, Niels & Tümer, Asuman Zeynep, 2008, In: American Journal of Medical Genetics. Part A. 146A, 18, p. 2431-2434 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
Buysse, K., Crepel, A., Menten, B., Pattyn, F., Antonacci, F., Veltman, J. A., Larsen, Lars Allan, Tümer, Asuman Zeynep, de Klein, A., van de Laar, I., Devriendt, K., Mortier, G. & Speleman, F., 2008, In: Journal of Medical Genetics. 45, 10, p. 672-678 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Engenheiro, E., Møller, R. S., Pinto, M., Soares, G., Nikanorova, M., Carreira, I. M., Ullmann, R., Tommerup, Niels & Tümer, Asuman Zeynep, 2008, In: Clinical Genetics. 73, 6, p. 579-584 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Multiple hypomethylation of maternally imprinted genes
Tümer, Asuman Zeynep, Temple, K., Mackay, D. J., Boonen, S. E., Olsen, B. S., Mortensen, H. B., Porksen, S., Bondrum-Nielsen, K., Tommerup, Niels, Hahnemann, J. M. & Boonen, S. E., 2008, In: Cellular Oncology. 30, 3, p. 275-275Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Møller, R. S., Kubart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, Niels, Ropers, H. H., Tümer, Asuman Zeynep & Kalscheuer, V. M., 2008, In: American Journal of Human Genetics. 82, 5, p. 1165-1170 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
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2621
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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
Published -
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