Zeynep Tümer
Clinical Professor
1 - 2 out of 2Page size: 10
- 2005
- Published
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
Sogaard, M., Tümer, Asuman Zeynep, Hjalgrim, H., Hahnemann, J., Friis, B., Ledaal, P., Pedersen, V. F., Baekgaard, P., Tommerup, Niels, Cingöz, S., Duno, M. & Brøndum-Nielsen, K., 2005, In: BMC Medical Genetics. 6, p. 21Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1. Mb of chromosome 21 and osteoporosis in Down syndrome
Tümer, Asuman Zeynep, Henriksen, A. M., Bache, Iben, Larsen, Lars Allan, Brixen, K., Illum, N., Rasmussen, K. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, p. 339-341Research 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
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
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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
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