Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 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
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, Merete, 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
- Published
An excess of chromosome 1 breakpoints in male infertility
Bache, I., Assche, E. V., Cingöz, S., Bugge, M., Tümer, Z. A., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondom-Nielsen, K., Bruun-Pedersen, G. & 39 others, , 2004, In: European Journal of Human Genetics. Vol. 12, p. 993-1000Research output: Contribution to journal › Journal article › Research › peer-review
- 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
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
Bache, Iben, Wadt, Karin Anna Wallentin, Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, Niels, Metzner, M., Vyas, P., Schmiegelow, Kjeld, Lausen, B. & Andersen, M. K., 2020, In: Blood Cancer Journal. 10, 3, 4 p., 27.Research output: Contribution to journal › Letter › Research › peer-review
- Published
Re-examination of carriers of balanced structural rearrangements
Bache, Iben, 2007Research output: Book/Report › Ph.D. thesis › Research
- Published
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Basilicata, M. F., Bruel, A. L., Semplicio, G., Valsecchi, C. I. K., Aktaş, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., Õunap, K., Mittler, G., van der Burgt, I., El Chehadeh, S., Cho, M. T., Pfundt, R., Tan, T. Y., Kirchhoff, M. & 21 others, , 2018, In: Nature Genetics. 50, 10, p. 1442-1451 10 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
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
ID: 33969897
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1859
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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 -
314
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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 -
232
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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