Articles dans des revues avec comité de lecture (150)
23.
Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., & Smits, G. (2017). Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome medicine, 9(1), 67. doi:10.1186/s13073-017-0452-y24.
Duerinckx, S., Verhelst, H., Perazzolo, C., David, P., Desmyter, L., Pirson, I., & Abramowicz, M. (2017). Severe congenital microcephaly with AP4M1 mutation, a case report. BMC medical genetics, 18(1), 48. doi:10.1186/s12881-017-0412-925.
N'Gbo N'Gbo Ikazabo, R., David, P., Vokaer, B., Liard, A., Ligot, N., Abramowicz, M., & Bier, J. C. (2017). A rare case of dementia and behavioral disorders in a sexagenarian. EC Neurology, 6(1), 18-21.27.
Ghisdal, L., Baron, C., Lebranchu, Y., Viklicky, O., Konarikova, A., Naesens, M., Kuypers, D., Dinic, M., Alamartine, E., Touchard, G., Antoine-Moussiaux, T., Essig, M., Rerolle, J.-P., Merville, P., Taupin, J. L., Le Meur, Y., Grall-Jezequel, A., Glowacki, F., Noel, C., Legendre, C., Anglicheau, D., Broeders, E. N., Coppieters, W., Docampo, E., Georges, M., Ajarchouh, Z., Massart, A., Racapé, J., Abramowicz, D., & Abramowicz, M. (2016). Genome-wide association study of acute renal graft rejection. American Journal of Transplantation. doi:10.1111/ajt.1391228.
Massart, A., Pallier, A., Le Moal, M., Noel, C., Chesneau, M., Le Moine, A., Abramowicz, M., Racapé, J., Maggiore, U., Abramowicz, D., et al. (2016). The DESCARTES-Nantes survey of kidney transplant recipients displaying clinical operational tolerance identifies 35 new tolerant patients and 34 almost tolerant patients. Nephrology, dialysis, transplantation. doi:10.1093/ndt/gfv43729.
Saadi, A., Verny, F., Siquier-Pernet, K., Bole-Feysot, C., Nitschké, P., Munnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., & Colleaux, L. (2016). Refining the phenotype associated with CASC5 mutation. Neurogenetics, 17(1), 71-78. doi:10.1007/s10048-015-0468-730.
Gazzo, A., Daneels, D., Cilia, E., Bonduelle, M., Abramowicz, M., Van Dooren, S., Smits, G., & Lenaerts, T. (2015). DIDA: A curated and annotated digenic diseases database. Nucleic acids research. doi:10.1093/nar/gkv106831.
Fumagalli, D., Gacquer, D., Rothé, F., Lefort, A., Libert, F., Brown, D., Kheddoumi, N., Shlien, A., Konopka, T., Salgado, R., Larsimont, D., Polyak, K., Willard-Gallo, K., Desmedt, C., Piccart-Gebhart, M., Abramowicz, M., Campbell, P. J., Sotiriou, C., & Detours, V. (2015). Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome. Cell reports. doi:10.1016/j.celrep.2015.09.03233.
Remiche, G., Kadhim, H., Abramowicz, M., Mavroudakis, N., Monnier, N., & Lunardi, J. (2015). A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. Neuromuscular disorders, 25(5), 397-402. doi:10.1016/j.nmd.2015.01.016