Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 2008
- Published
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Gilling, M., Lauritsen, M. B., Møller, Morten, Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, Hans Rudolf Lytchoff, Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H., Ullmann, R., Bache, Iben, Tümer, Asuman Zeynep & Tommerup, Niels, 2008, In: European Journal of Human Genetics. 16, 3, p. 312-9 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes
Buonincontri, R., Bache, Iben, Grigorenko, E. L. & Tommerup, Niels, 2008, In: Cellular Oncology. 30, 3, p. 250 1 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2007
- Published
Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements
Bache, Iben, Nielsen, N. M., Rostgaard, K., Tommerup, Niels & Frisch, M., 2007, In: Arthritis and Rheumatism. 56, 7, p. 2402-2409 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
Belloso, J. M., Bache, Iben, Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., Ropers, H. H., Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: European Journal of Human Genetics. 15, 6, p. 711-713 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers
Bache, Iben, Brøndum-Nielsen, K. & Tommerup, Niels, 2007, In: Genetics In Medicine. 9, 3, p. 185-187 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Re-examination of carriers of balanced structural rearrangements
Bache, Iben, 2007Research output: Book/Report › Ph.D. thesis › Research
- 2006
- Published
4q35 deletion and 10p15 duplication associated with immunodeficiency
Cingoz, S., Bisgaard, A. M., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H. H., Maas, N., Buggenhout, G. V., Tommerup, Niels, Tümer, Asuman Zeynep & Bache, Iben, 2006, In: American Journal of Medical Genetics. Part A. 140A, 20, p. 2231-2235 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris
Tzschach, A., Hoffmann, K., Hoeltzenbein, M., Bache, Iben, Tommerup, Niels, Bommer, C., Korner, H., Kalscheuer, V. & Ropers, H. H., 2006, In: Clinical Genetics. 69, 2, p. 189-193 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement
Bache, Iben, Hasle, H., Tommerup, Niels & Olsen, J. H., 2006, In: Genes, Chromosomes & Cancer. 45, 3, p. 231-246 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases
Bache, Iben, Hjorth, M., Bugge, M., Holstebroe, S., Hilden, Jørgen, Schmidt, Lone, Brondum-Nielsen, K., Bruun-Petersen, G., Jensen, P. K. A., Lundsteen, C., Niebuhr, E., Rasmussen, K. & Tommerup, Niels, 2006, In: European Journal of Human Genetics. 14, 4, p. 410-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33969897
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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
Published -
320
downloads
NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
Published -
246
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Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
Research output: Contribution to journal › Journal article › Research › peer-review
Published