Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
151 - 175 out of 198Page size: 25
  1. 2009
  2. Published

    Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

    Hilhorst-Hofstee, Y., Tümer, Asuman Zeynep, Born, P., Knijnenburg, J., Hansson, K., Yatawara, V., Steensberg, J., Ullmann, R., Arkesteijn, G., Tommerup, Niels & Larsen, Lars Allan, 2009, In: American Journal of Medical Genetics. Part A. 149A, 8, p. 1830-3 3 p.

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

  3. 2008
  4. 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

  5. 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, Merete, 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

  6. 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

  7. 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-U16

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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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. 275-275

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

  13. 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

  14. 2007
  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. Published

    Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

    Jakobsen, L. P., Ullmann, R., Christensen, S. B., Jensen, K. E., Molsted, K., Henriksen, K. F., Hansen, C., Knudsen, M. A. F., Larsen, Lars Allan, Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: Journal of Medical Genetics. 44, 6, p. 381-386 5 p.

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

  21. Published

    The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity

    Fickelscher, I., Liehr, T., Watts, K., Bryant, V., Barber, J. C. K., Heidemann, S., Siebert, R., Hertz, J. M., Tümer, Asuman Zeynep & Thomas, N. S., 2007, In: American Journal of Human Genetics. 81, 4, p. 847-856 9 p.

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

  22. 2006
  23. Published

    4q35 deletion and 10p15 duplication associated with immunodeficiency

    Cingoz, S., Bisgaard, A. M., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H. H., Maas, N., Buggenhout, G. V., Tommerup, Niels, Tümer, Asuman Zeynep & Bache, Iben, 2006, In: American Journal of Medical Genetics. Part A. 140A, 20, p. 2231-2235 4 p.

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

  24. Published

    Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

    Bisgaard, A. M., Kirchhoff, M., Tümer, Asuman Zeynep, Jepsen, B., Brøndum-Nielsen, K., Cohen, M., Hamborg-Petersen, B., Bryndorf, T., Tommerup, Niels & Skovby, F., 2006, In: American Journal of Medical Genetics. Part A. 140A, 20, p. 2180-2187 7 p.

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

  25. Published

    Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans

    Gilling, M., Dullinger, J. S., Gesk, S., Metzke-Heidemann, S., Siebert, R., Meyer, T., Brondum-Nielsen, K., Tommerup, Niels, Ropers, H. H., Tümer, Asuman Zeynep, Kalscheuer, V. M. & Thomas, N. S., 2006, In: American Journal of Human Genetics. 78, 5, p. 878-883 5 p.

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

  26. Published

    Breakpoints around the HOXD cluster result in various limb malformations

    Dlugaszewska, B., Silahtaroglu, Asli, Menzel, C., Kübart, S., Cohen, M., Mundlos, S., Tümer, Asuman Zeynep, Kjær, K. W., Friedrich, U., Ropers, H., Tommerup, Niels, Neitzel, H. & Kalscheuer, V. M., 2006, In: Journal of Medical Genetics. 43, 2, p. 111-118 8 p.

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

  27. Published

    Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

    Baekvad-Hansen, M., Tümer, Asuman Zeynep, Delicado, A., Erdogan, F., Tommerup, Niels & Larsen, Lars Allan, 2006, In: American Journal of Medical Genetics. Part A. 140A, 5, p. 427-433 6 p.

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

  28. Published

    Hedgehog signaling in small-cell lung cancer: Frequent in vivo but a rare event in vitro

    Vestergaard, J., Pedersen, M. W., Pedersen, N., Ensinger, C., Tümer, Asuman Zeynep, Tommerup, Niels, Poulsen, H. S. & Larsen, Lars Allan, 2006, In: Lung Cancer. 52, 3, p. 281-290 9 p.

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

  29. Published

    Screening of 99 Danish patients with congenital heart disease for GATA4 mutations

    Zhang, L., Tümer, Asuman Zeynep, Jacobsen, J. R., Andersen, P. S., Tommerup, Niels & Larsen, Lars Allan, 2006, In: Genetic Testing. 10, 4, p. 277-80 3 p.

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

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