Articles dans des revues avec comité de lecture (148)
  1. 70. 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
  2. 71. 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
  3. 72. 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
  4. 73. 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
  5. 74. 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
  6. 75. 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
  7. 76. 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
  8. 77. 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
  9. 78. 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
  10. 79. 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.
  11. 80. Broeders, E. N., Abramowicz, D., Abramowicz, M., & Parma, J. (2004). A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis. American journal of medical genetics. Part A, 128A(3), 331. doi:10.1002/ajmg.a.30058
  12. 81. Pichon, B., Vankerckhove, S., Bourrouillou, G., Duprez, L., & Abramowicz, M. (2004). A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. European journal of human genetics, 12(5), 419-421. doi:10.1038/sj.ejhg.5201169
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