Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
61 - 70 out of 201Page size: 10
  1. 2018
  2. Published

    Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

    Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2018, In: Stem Cell Research. 31, p. 235-239

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

  3. Published

    Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

    Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2018, In: Stem Cell Research. 33, p. 46-50

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

  4. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M. & 4 others, Tommerup, Niels, Lundberg, E. S., Tümer, Asuman Zeynep & Lindstrand, A., 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.

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

  5. Published

    Structural and sequence variants in patients with Silver-Russell syndrome or similar features—Curation of a disease database

    Tümer, Asuman Zeynep, López-Hernández, J. A., Netchine, I., Elbracht, M., Grønskov, K., Gede, L. B., Sachwitz, J., den Dunnen, J. T. & Eggermann, T., 2018, In: Human Mutation. 39, 3, p. 345-364 20 p.

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

  6. Published

    Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

    Jelsig, A. M., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2018, In: Ugeskrift for Laeger. 180, 23, 4 p., V10170731.

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

  7. Published

    Uniparental Disomy and Imprinting Disorders

    Eggermann, T., J.g. Mackay, D. & Tümer, Asuman Zeynep, 2018, In: OBM Genetics. 2, 3, 19 p., 031.

    Research output: Contribution to journal › Review › Research › peer-review

  8. 2017
  9. Published

    Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 others, Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Asuman Zeynep, Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., Aug 2017, In: American Journal of Medical Genetics. Part A. 173, 8, p. 2108-2125 18 p.

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

  10. Published

    Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

    Cornelius, N., Wardman, J. H., Hargreaves, I. P., Neergheen, V., Bie, A. S., Tümer, Asuman Zeynep, Nielsen, Jørgen Erik & Nielsen, T. T., May 2017, In: Mitochondrion. 34, p. 103-114 12 p.

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

  11. Published

    Diagnosis and management of Silver-Russell syndrome: first international consensus statement

    Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., Maghnie, M. & 16 others, Mohnike, K., Monk, D., Moore, G. E., Murray, P. G., Ogata, T., Petit, I. O., Russo, S., Said, E., Toumba, M., Tümer, Asuman Zeynep, Binder, G., Eggermann, T., Harbison, M. D., Temple, I. K., Mackay, D. J. G. & Netchine, I., Feb 2017, In: Nature reviews. Endocrinology. 13, 2, p. 105-124 20 p.

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

  12. Published

    A 37-year-old Menkes disease patient: Residual ATP7A activity and early copper administration as key factors in beneficial treatment

    Tümer, Asuman Zeynep, Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N. & Møller, L. B., 2017, In: Clinical Genetics. 92, 5, p. 548-553

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

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