drs. K. (Katelijne) Bouman

Clinical Geneticist

drs. K. (Katelijne) Bouman
E-mail:
k.bouman umcg.nl

Research

  1. 2020
  2. 2019
  3. 2018
  4. Heijligers, M., van Montfoort, A., Meijer-Hoogeveen, M., Broekmans, F., Bouman, K., Homminga, I., ... de Die-Smulders, C. (2018). Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014. Journal of Assisted Reproduction and Genetics, 35(11), 1995-2002. https://doi.org/10.1007/s10815-018-1286-2
  5. Friederich, M. W., Timal, S., Powell, C. A., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., ... Donnini, C. (2018). Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature Communications, 9(1), [4065]. https://doi.org/10.1038/s41467-018-06250-w
  6. 2017
  7. 2016
  8. 2015
  9. Gannon, T., Perveen, R., Schlecht, H., Ramsden, S., Anderson, B., Kerr, B., ... DDD Study (2015). Further delineation of the KAT6B molecular and phenotypic spectrum. European Journal of Human Genetics, 23(9), 1165-1170. https://doi.org/10.1038/ejhg.2014.248
  10. van de Putte, D. E. F., Frankhuizen, W. S., Vijfhuizen, L., Groenewegen, L., Tamminga, R. Y. J., Bouman, K., ... Boon, E. M. J. (2015). Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients. Haemophilia, 21(3), E237-E239. https://doi.org/10.1111/hae.12648
  11. 2013
  12. 2012
  13. 2011
  14. 2010
  15. Haadsma, M. L., Mooij, T. M., Groen, H., Burger, C. W., Lambalk, C. B., Broekmans, F. J. M., ... OMEGA-Project Grp (2010). A reduced size of the ovarian follicle pool is associated with an increased risk of a trisomic pregnancy in IVF-treated women. Human Reproduction, 25(2), 552-558. https://doi.org/10.1093/humrep/dep404
  16. 2009
  17. 2008
  18. 2007
  19. 2006
  20. 2004
  21. 2002
  22. Dauwerse, JG., Bouman, K., van Essen, AJ., van der Hout, AH., Kolsters, G., Breuning, MH., & Peters, DJM. (2002). Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. JOURNAL OF MEDICAL GENETICS, 39(2), 136-141.
  23. 2000
  24. Sikkema-Raddatz, B., Bouman, K., Verschuuren-Bemelmans, CC., Stoepker, M., Mantingh, A., Beekhuis, N. V., & de Jong, B. (2000). Four years' cytogenetic experience with the culture of chorionic villi. Prenatal Diagnosis, 20(12), 950-955.
  25. 1999
  26. Sikkema-Raddatz, B., Bouman, K., Verschuuren-Bemelmans, CC., & de Jong, B. (1999). Trisomy 12 mosaicism in CVS culture confirmed in the fetus. Prenatal Diagnosis, 19(12), 1176-1177.
  27. Verheij, JBGM., Bouman, K., van Lingen, RA., Campagne, JGV., Leegte, B., van der Veen, AY., ... van Essen, AJ. (1999). Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. American Journal of Medical Genetics, 86(2), 168-173.
  28. 1998
  29. Leegte, B., Sikkema-Raddatz, B., Hordijk, R., Bouman, K., van Essen, T., Castedo, S., & de Jong, B. (1998). Three cases of mosaicism for balanced reciprocal translocations. American Journal of Medical Genetics, 79(5), 362-365.
  30. 1996
  31. Vrtel, R., Verhoef, S., Bouman, K., Maheshwar, MM., Nellist, M., vanEssen, AJ., ... vandenOuweland, AMW. (1996). Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. JOURNAL OF MEDICAL GENETICS, 33(1), 47-51.
  32. 1993
  33. COLLEE, JM., TENKATE, LP., DEVRIES, HG., KLIPHUIS, JW., BOUMAN, K., SCHEFFER, H., & GERRITSEN, J. (1993). ALLELE SHARING ON CHROMOSOME-11Q13 IN SIBS WITH ASTHMA AND ATOPY. LANCET, 342(8876), 936-936.

ID: 53862