Articles dans des revues avec comité de lecture (148)
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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), 567-579.84.
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:10.1186/1471-2350-5-2285.
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.2004-016686.
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.2003.09.01587.
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:10.1086/37908589.
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:102179622603190.
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:10.1089/10906570332214676891.
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), 2957-2962.93.
Vassart, G., Abramowicz, M., Cochaux, P., Duprez, L., El Housni, H., Hayez, F., Heimann, P., Parma, J., Vamos, E., & Van Regemorter, N. (2002). Le Service de Génétique Médicale. Revue médicale de Bruxelles, 23 Suppl 2, 63-67.