Articles dans des revues avec comité de lecture (150)
  1. 82. 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
  2. 83. 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
  3. 84. Kumps, A., Vamos, E., Mardens, Y. L., Abramowicz, M., Ramakers, J., & Duez, P. (2004). Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid. Journal of inherited metabolic disease, 27(5), 567-579.
  4. 85. Emiliani, S., Gonzalez-Merino, E., Englert, Y., & Abramowicz, M. (2004). Comparison of the validity of preimplantation genetic diagnosis for embryo chromosomal anomalies by fluorescence in situ hybridization on one or two blastomeres. Genetic testing, 8(1), 69-72. doi:10.1089/109065704323016058
  5. 86. Hobertus, C., Kooy, F., Gecz, J., Abramowicz, M., Holinski-Feder, E., Schwartz, C., & Christophe, D. (2004). TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. BMC medical genetics, 5(22). doi:10.1186/1471-2350-5-22
  6. 87. Meeus, L., Gilbert, B., Rydlewski, C., Parma, J., Lienhardt Roussie, A., Abramowicz, M., Vilain, C., Christophe, D., Costagliola, S., & Vassart, G. (2004). Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. The Journal of clinical endocrinology and metabolism, 89, 4285-4291. doi:10.1210/jc.2004-0166
  7. 88. Blanpain, C., Le Poul, E., Parma, J., Knoop, C., Detheux, M., Parmentier, M., Vassart, G., & Abramowicz, M. (2003). Serotonin 5-HT(2B) receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension. Cardiovascular Research, 60(3), 518-528. doi:10.1016/j.cardiores.2003.09.015
  8. 89. Bond, J., Scott, S., Hampshire, D. J., Springell, K., Corry, P., Abramowicz, M., Mochida, G. H., Hennekam, R. C., Maher, E. R., Fryns, J. P., Alswaid, A., Jafri, H., Rashid, Y., Mubaidin, A., Walsh, C. A., Roberts, E., & Woods, C. G. (2003). Protein-truncating mutations in ASPM cause variable reduction in brain size. American journal of human genetics, 73(5), 1170-1177. doi:10.1086/379085
  9. 90. Abramowicz, M., Van Haecke, P., Demedts, M., & Delcroix, M. (2003). Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. The European respiratory journal, 22(3), 560-562. doi:10.1183/09031936.03.00095303
  10. 91. Emiliani, S., Gonzalez-Merino, E., Van Den Bergh, M. J., Abramowicz, M., & Englert, Y. (2003). Higher degree of chromosome mosaicism in preimplantation embryos from carriers of robertsonian translocation t(13;14) in comparison with embryos from karyotypically normal IVF patients. Journal of assisted reproduction and genetics, 20(2), 95-100. doi:10.1023/A:1021796226031
  11. 92. Gonzalez-Merino, E., Emiliani, S., Vassart, G., Van Den Bergh, M. J., Vannin, A.-S., Abramowicz, M., Delneste, D., & Englert, Y. (2003). Incidence of chromosomal mosaicism in human embryos at different developmental stages analyzed by fluorescence in situ hybridization. Genetic testing, 7(2), 85-95. doi:10.1089/109065703322146768
  12. 93. Emiliani, S., Gonzalez-Merino, E., Van Den Bergh, M. J., Delneste, D., Englert, Y., & Abramowicz, M. (2002). Correlation between fluorescence in-situ hybridization analyses and in-vitro development to blastocyst stage of embryos from Robertsonian translocation (13;14) carriers. Human reproduction, 17(11), 2957-2962.
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