Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 13Page size: 10
  1. 2011
  2. Published

    High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

    Kariminejad, R., Lind-Thomsen, A., Tümer, Asuman Zeynep, Erdogan, F., Ropers, H. H., Tommerup, Niels, Ullmann, R. & Møller, R. S., Dec 2011, In: Human Mutation. 32, 12, p. 1427-35 9 p.

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

  3. Published

    Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

    Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Asuman Zeynep, Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K. & Petersen, M. B., Nov 2011, In: American Journal of Medical Genetics. Part A. 155A, 11, p. 2841-54 14 p.

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

  4. Published

    Three new loci for determining x chromosome inactivation patterns

    Bertelsen, B., Tümer, Asuman Zeynep & Ravn, K., Nov 2011, In: Journal of Molecular Diagnostics. 13, 5, p. 537-40 4 p.

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

  5. Published

    Clinical utility gene card for: Menkes disease

    Tümer, Asuman Zeynep & Klomp, L., Oct 2011, In: European Journal of Human Genetics. 19, 10

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

  6. Published

    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

    Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K. L., Tümer, Asuman Zeynep, Nielsen, J. B. & Skjeldal, O. H., Aug 2011, In: Orphanet Journal of Rare Diseases. 6, p. 58

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

  7. Published

    Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    Nielsen, M. G., Lind-Thomsen, A., Mang, Y., Bak, M., Møller, Morten, Ullmann, R., Kristoffersson, U., Kalscheuer, V. M., Henriksen, K. F., Bugge, Merete, Tümer, Asuman Zeynep & Tommerup, Niels, Jul 2011, In: European Journal of Medical Genetics. 54, 4, p. e383-8

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

  8. Published

    Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    Grønskov, K., Poole, R. L., Hahnemann, J. M. D., Thomson, J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Murphy, R., Ravn, K., Melchior, L., Dedic, A., Dolmer, B., Temple, I. K., Boonen, S. E. & Mackay, D. J. G., 1 May 2011, In: Journal of Medical Genetics. 48, 5, p. 308-11 4 p.

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

  9. Published

    A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

    Nytofte, N. S., Serrano, M. A., Monte, M. J., Gonzalez-Sanchez, E., Tümer, Asuman Zeynep, Ladefoged, K., Briz, O. & Marin, J. J. G., 1 Apr 2011, In: Journal of Medical Genetics. 48, 4, p. 219-25 7 p.

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

  10. Published

    Clinical utility gene card for: Axenfeld-Rieger syndrome

    Weisschuh, N., De Baere, E., Wissinger, B. & Tümer, Asuman Zeynep, 1 Mar 2011, In: European Journal of Human Genetics. 19, 3

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

  11. Published

    Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    Cingöz, S., Bache, Iben, Bjerglund, L., Ropers, H., Tommerup, Niels, Jensen, H., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 1 Jan 2011, In: American Journal of Medical Genetics. Part A. 155A, 1, p. 203-6 4 p.

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

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