Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- Published
17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature
Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, Iben, Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, Olav Bennike Bjørn, Brasch-Andersen, C. & Sunde, L., Nov 2016, In: American Journal of Medical Genetics. Part A. 170, 11, p. 2934-2942Research output: Contribution to journal › Journal article › Research › peer-review
- Published
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J-M., Huet, F., Verges, B., Petit, J-M., Mosca-Boidron, A-L., Marle, N., Mugneret, F., Masurel-Paulet, A., Novelli, A., Tümer, Z. & 3 others, , Jan 2014, In: Journal of Medical Genetics. 51, 1, p. 21-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
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 cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1
Buonincontri, R., Bache, Iben, Silahtaroglu, Asli, Elbro, Carsten, Nielsen, A. V., Ullmann, R., Arkesteijn, G. & Tommerup, Niels, 1 Jan 2011, In: Behavior Genetics. 41, 1, p. 125-33 9 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
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
- 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
Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder
Rajkumar, A. P., Christensen, J. H., Mattheisen, M., Jacobsen, I., Bache, Iben, Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., Tümer, Asuman Zeynep, Mors, O. & Børglum, A. D., 1 Mar 2015, In: Bipolar Disorders (English Edition, Online). 17, 2, p. 205-211 7 p.Research 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
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
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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
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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