Zeynep Tümer
Clinical Professor
- 2014
- Published
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance
Kaalund, S. S., Venø, M. T., Bak, M., Møller, R. S., Laursen, H., Madsen, F., Broholm, H., Quistorff, B., Uldall, P., Tommerup, Niels, Kauppinen, S., Sabers, A., Fluiter, K., Møller, L. B., Nossent, Anne Yaël, Silahtaroglu, Asli, Kjems, J., Aronica, E. & Tümer, Asuman Zeynep, Dec 2014, In: Epilepsia. 55, 12, p. 2017-2027 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Association of the CHRNA7 promoter variant −86T with Tourette syndrome and comorbid obsessive-compulsive disorder
Bertelsen, B., Melchior, L., Tümer, Asuman Zeynep, Groth, C., Mol Debes, N., Skov, L., Holst, K. K., Fagerlund, Birgitte & Mikkelsen, Jens D., 30 Nov 2014, In: Psychiatry Research. 219, 3, p. 710-711 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome
Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Glenthøj, Birte Yding, Rizzo, R., Debes, Nanette M Monique Mol, Skov, L., Brøndum-Nielsen, K., Paschou, P., Silahtaroglu, Asli & Tümer, Asuman Zeynep, Nov 2014, In: European Journal of Human Genetics. 22, 11, p. 1283-1289 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
Grønskov, K., Diness, B., Stahlhut, M., Zilmer, M., Tümer, Asuman Zeynep, Bisgaard, A. & Brøndum-Nielsen, K., 15 Apr 2014, In: European Journal of Medical Genetics. 57, 6, p. 284-287 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
Zink, A. M., Wohlleber, E., Engels, H., Rødningen, O. K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F. F., Kreiß-Nachtsheim, M., Vogt, P. H., Prescott, T. E., Tümer, Asuman Zeynep & Lee, J. A., Feb 2014, In: Molecular Syndromology. 5, 2, p. 65-75 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J-M., Huet, F., Verges, B., Petit, J-M., Mosca-Boidron, A-L., Marle, N., Mugneret, F., Masurel-Paulet, A., Novelli, A., Tümer, Z. & 3 others, , Jan 2014, In: Journal of Medical Genetics. 51, 1, p. 21-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J. & 11 others, , 2014, In: Human Genetics. 133, 5, p. 625-38 14 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