Zeynep Tümer
Clinical Professor
- 2011
- 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
- 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
- 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
- Published
Clinical utility gene card for: Menkes disease
Tümer, Asuman Zeynep & Klomp, L., Oct 2011, In: European Journal of Human Genetics. 19, 10Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 58Research output: Contribution to journal › Journal article › Research › peer-review
- 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, M., Tümer, Asuman Zeynep & Tommerup, Niels, Jul 2011, In: European Journal of Medical Genetics. 54, 4, p. e383-8Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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, 3Research output: Contribution to journal › Journal article › Research › peer-review
- 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
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