Articles dans des revues avec comité de lecture (148)
  1. 58. Martinovici, D., Ransy, V., Vanden Eijnden, S., Ridremont, C., Pardou, A., Cassart, M., Avni, E., donner, C., Lingier, P., Mathieu, A., Gulbis, B., De Brouckere, V., Cnop, M., Abramowicz, M., & Désir, J. (2010). Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. European journal of medical genetics, 53(1), 25-28. doi:10.1016/j.ejmg.2009.10.004
  2. 59. Ghisdal, L., Baron, C., Le Meur, Y., Lionet, A., Halimi, J.-M., Rerolle, J.-P., Glowacki, F., Lebranchu, Y., Drouet, M., Noel, C., El Housni, H., Cochaux, P., Wissing, K. M., Abramowicz, D., & Abramowicz, M. (2009). TCF7L2 polymorphism associates with new-onset diabetes after transplantation. Journal of the American Society of Nephrology, 20(11), 2459-2467. doi:10.1681/ASN.2008121314
  3. 60. Gonzalez-Merino, E., Zengbe, V., Vannin, A.-S., Place, I., Bostan, A., Emiliani, S., Liesnard, C., Goffard, J.-C., Abramowicz, M., & Englert, Y. (2009). Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report. Clinical genetics, 75(3), 277-281. doi:10.1111/j.1399-0004.2008.01119.x
  4. 61. Gankam Kengne, F., Vokaer, M., Fery, P., Abramowicz, M., Massat, I., Van Den Broeck, M., Van Broeckhoven, C., & Bier, J. C. (2009). Pure progressive amnesia as variant of genetically proven Alzheimer disease. European journal of neurology, 16(2), e9-10. doi:10.1111/j.1468-1331.2008.02391.x
  5. 62. Gonzalez-Merino, E., Emiliani, S., Pichon, B. M., Parma, J., Vannin, A.-S., Delbaere, A., Vassart, G., Abramowicz, M., & Englert, Y. (2008). Le diagnostic génétique préimplantatoire (DPI): L'expérience de l'Hôpital Erasme. Revue médicale de Bruxelles, 29(6), 527-534.
  6. 63. Prattichizzo, C., Macca, M., Novelli, V., Giorgio, G., Barra, A., Franco, B., Oral-Facial-Digital Type I (OFDI) Collaborative Group, ,., & Abramowicz, M. (2008). Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Human mutation, 29(10), 1237-1246. doi:10.1002/humu.20792
  7. 64. Brakensiek, K., Frye-Boukhriss, H., Mälzer, M., Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., & Stuhrmann, M. (2008). Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clinical genetics, 74(2), 171-177. doi:10.1111/j.1399-0004.2008.01029.x
  8. 65. Désir, J., Cassart, M., David, P., Van Bogaert, P., & Abramowicz, M. (2008). Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. American journal of medical genetics. Part A, 146A(11), 1439-1443. doi:10.1002/ajmg.a.32312
  9. 66. Désir, J., & Abramowicz, M. (2008). Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet journal of rare diseases, 3, 28. doi:10.1186/1750-1172-3-28
  10. 67. Gonzalez-Merino, E., Hans, C., Abramowicz, M., Englert, Y., & Emiliani, S. (2007). Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. Fertility and sterility, 88(3), 600-606. doi:10.1016/j.fertnstert.2006.12.020
  11. 68. Van Bogaert, P., Azizieh, N.-R., Désir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., & Abramowicz, M. (2007). Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Annals of neurology, 61(6), 579-586. doi:10.1002/ana.21121
  12. 69. Désir, J., Moya, G., Reish, O., Van Regemorter, N., Deconinck, H., David, K. L., Meire, F. M., & Abramowicz, M. (2007). Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. Journal of medical genetics, 44(5), 322-326. doi:10.1136/jmg.2006.046904
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