Articles dans des revues avec comité de lecture (150)
  1. 70. 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
  2. 71. 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
  3. 72. Désir, J., Abramowicz, M., & Tunca, Y. (2006). Novel mutations in prenatal diagnosis of primary microcephaly. Prenatal diagnosis, 26(10), 989. doi:10.1002/pd.1536
  4. 73. Tunca, Y., Vurucu, S., Parma, J., Akin, R., Désir, J., Baser, I., Ergun, A., & Abramowicz, M. (2006). Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data. Prenatal diagnosis, 26(5), 449-453. doi:10.1002/pd.1434
  5. 74. Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., Abramowicz, M., Galie, N., Morisaki, H., Kyotani, S., Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., & Trembath, R. C. (2006). Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Human mutation, 27(2), 121-132. doi:10.1002/humu.20285
  6. 75. Grasberger, H., Ringkananont, U., Lefrancois, P., Abramowicz, M., Vassart, G., & Refetoff, S. (2005). Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Molecular endocrinology, 19(7), 1779-1791. doi:10.1210/me.2004-0426
  7. 76. Grasberger, H., Mimouni-Bloch, A., Vantyghem, M.-C., Van Vliet, G., Abramowicz, M., Metzger, D. L., Abdullatif, H., Rydlewski, C., Macchia, P. E., Scherberg, N., Van Sande, J., Mimouni, M., Weiss, R. E., Vassart, G., & Refetoff, S. (2005). Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci. The Journal of clinical endocrinology and metabolism, 90(7), 4025-4034. doi:10.1210/jc.2005-0572
  8. 77. Thomee, C., Schubert, S. W., Parma, J., Lê, P. Q., Hashemolhosseini, S., Wegner, M., & Abramowicz, M. (2005). GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. The Journal of clinical endocrinology and metabolism, 90(5), 2487-2492. doi:10.1210/jc.2004-2450
  9. 78. Abramowicz, M., Ribai A Nyam, P., & Cordonnier, M. (2005). Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis. American journal of medical genetics. Part A, 132A(1), 76-79. doi:10.1002/ajmg.a.30372
  10. 79. Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M., Bruno, M., Sorensen, B. F., Tang, L., Fu, Y.-H., & Ptácek, L. J. (2004). The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Human molecular genetics, 13(24), 3161-3170. doi:10.1093/hmg/ddh330
  11. 80. Dan, B., & Abramowicz, M. (2004). From genetous ailments to genetic disorders: Ireland's 'On Idiocy and Imbecility' revisited. Developmental medicine and child neurology, 46(9), 646-647. doi:10.1111/j.1469-8749.2004.tb01030.x
  12. 81. Franchimont, D., Vermeire, S., El Housni, H., Pierik, M., Van Steen, K., Gustot, T., Quertinmont, E., Abramowicz, M., Van Gossum, A., Devière, J., & Rutgeerts, P. (2004). Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn's disease and ulcerative colitis. Gut, 53(7), 987-992.
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