Zeynep Tümer
Clinical Professor
- 2018
- 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. 235-239Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 46-50Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- 2017
- 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, , 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
- 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
- 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, , Feb 2017, In: Nature reviews. Endocrinology. 13, 2, p. 105-124 20 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 548-553Research 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