Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 2015
- 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
- 2014
- 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
Saturation of the Human Genome with Chromosomal Breakpoints
Rasmussen, Malene Bøgehus, Schlechter, C. L., Mehrjouy, M. M., Bache, Iben, Lind-Thomsen, A., Silahtaroglu, Asli, Kjærgaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Fonseca, A. C. D., Morgante, A. M. V., Abe, K. T., Harding, Christina Halgren, Bak, M., Jacky, P. & Tommerup, Niels, 2014, In: Cytogenetic and Genome Research. 142, 3, 2 p., 2.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- 2012
- Published
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity
Harding, Christina Halgren, Bache, Iben, Bak, M., Myatt, M. W., Anderson, C. M., Brøndum-Nielsen, K. & Tommerup, Niels, Dec 2012, In: European Journal of Human Genetics. 20, 12, p. 1315-1319 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2011
- 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
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
- Published
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Hansen, C. H., Kjaergaard, S., Bak, M., Hansen, C., Elschich, Z., Anderson, C. M., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E., Nielsen, M., den Hollander, N., Ruivenkamp, C., Isidor, B., Le Caignec, C., Zannolli, R., Mucciolo, M., Renieri, A., Mari, F., Anderlid, B-M. & 4 others, , 2011, In: Clinical Genetics. 82, 3, p. 248-55 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2010
- Published
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
Sehested, L. T., Møller, R. S., Bache, Iben, Andersen, N. B., Ullmann, R., Tommerup, Niels & Tümer, Asuman Zeynep, 1 Dec 2010, In: American Journal of Medical Genetics. Part A. 152A, 12, p. 3115-9 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Autoimmune diseases in women with Turner's syndrome
Jørgensen, K. T., Rostgaard, K., Bache, Iben, Biggar, R. J., Nielsen, N. M., Tommerup, Niels & Frisch, M., 2010, In: Arthritis & Rheumatism. 62, 3, p. 658-66 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Haploinsufficiency of TAB2 causes congenital heart defects in humans
Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L., Van Loo, P., Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Asuman Zeynep, van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K. & Larsen, Lars Allan, 2010, In: American Journal of Human Genetics. 86, 6, p. 839-49 10 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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320
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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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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