Iben Bache

Iben Bache

Guest researcher

ORCID: 0000-0001-7562-8546

Publication year:
All
11 - 20 out of 42Page size: 10
  1. 2018
  2. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J., Bryndorf, T. & 5 others, Hansen, C., Talkowski, M. E., Bak, M., Tommerup, Niels & Bache, Iben, 2018, In: American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 2017
  4. Published

    von Hippel-Lindau development in children and adolescents

    Launbjerg, K., Bache, Iben, Galanakis, M., Bisgaard, M. L. & Binderup, M. L. M., Sep 2017, In: American Journal of Medical Genetics. Part A. 173, 9, p. 2381-2394

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Enhancer swapping dual loss and gains of enhancers by balanced translocations and inversions between highly conserved regulatory domains

    Mehrjouy, M. M., Bak, M., Lupianez, D. G., Heinrich, V., Vermeesch, J., Schinzel, A., Schonewolf-Greulich, B., Bache, Iben, Mundlos, S. & Tommerup, Niels, 2017, In: Molecular Cytogenetics. 10, S1, p. 68

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  6. Published

    NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

    Tommerup, N., Fonseca, A. C., Mehrjouy, M., Rasmussen, M. B., Bache, I., Halgren, C., Kroisel, P., Midyan, S., Vermeesch, J., Vianna-Morgante, A. M., Abe, K. T., Moretti-Ferreira, D., Paskulin, G., Angelova, L., Rajcan-Separovic, E., Sismani, C., Sedlacek, Z., Fagerberg, C., Brondum-Nielsen, K., Vogel, I. & 36 others, Bojesen, A., Ounap, K., Roht, L., Varilo, T., Luukkonen, T., Lespinasse, J., Beneteau, C., Kalscheuer, V. M., Ehmke, N., Daumer-Haas, C., Stefanou, E. G., Marta Czako, Kosztolanyi, G., Sheth, F., Zuffardi, O., Bonaglia, C., Novelli, A., Fannemel, M., Dias, P., Kokalj-Vokac, N., Ramos-Arroyo, M. A., Rodriguez Martinez, L., Guitart, M., Schinzel, A., Engelen, J., Silan, F., Akkari, Y., Batanian, J. R., Kim, H., Aristidou, C., De Almeida, C., Lewis, S., Moreno-Igoa, M., Hovhannisyan, A., Jacky, P. & Bak, M., 2017, In: Molecular Cytogenetics. 10, S1, p. 70 1 p., 7.P1.

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  7. 2016
  8. Published

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Rudolf, G., Lesca, G., Mehrjouy, M. M., Labalme, A., Salmi, M., Bache, I., Bruneau, N., Pendziwiat, M., Fluss, J., de Bellescize, J., Scholly, J., Moller, R. S., Craiu, D., Tommerup, N., Valenti-Hirsch, M. P., Schluth-Bolard, C., Sloan-Béna, F., Helbig, K. L., Weckhuysen, S., Edery, P. & 21 others, Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1761-1770 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H., Krapels, I. P. C., Claes, G. R., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, Iben, Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 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. 2934-2942

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. Published

    Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

    Rasmussen, Malene Bøgehus, Bache, Iben, Mehrjouy, M. M., Silahtaroglu, Asli, Kjaergaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Vogel, I., Hertz, J. M., Fagerberg, C., Bojesen, Anders Miki, Petersen, M. B., Hansen, J., Halgren, C., Bak, M. & Tommerup, Niels, May 2016, In: Cancer genetics. 209, 5, p. 231-231

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  12. Published

    Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education

    Makransky, Guido, Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, Iben, Silahtaroglu, Asli & Nørremølle, Anne, Mar 2016, In: B M C Medical Education. 16, 1, p. 1-9 9 p., 98.

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. Published

    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

    Jespersgaard, C., Damgaard, I. N., Cornelius, N., Bache, Iben, Knabe, N., Miranda, Maria J. & Tümer, Asuman Zeynep, 2016, In: Molecular Cytogenetics. 9, 7 p., 11.

    Research output: Contribution to journal › Journal article › Research › peer-review

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ID: 33969897