Articles dans des revues avec comité de lecture (53)
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Montanelli, L., Delbaere, A., Di Carlo, C., Nappi, C., Smits, G., Vassart, G., & Costagliola, S. (2004). A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. The Journal of clinical endocrinology and metabolism, 89(4), 1255-1258. doi:10.1210/jc.2003-03191048.
Delbaere, A., Smits, G., Olatunbosun, O., Pierson, R., Vassart, G., & Costagliola, S. (2004). New insights into the pathophysiology of ovarian hyperstimulation syndrome. What makes the difference between spontaneous and iatrogenic syndrome? Human reproduction, 19(3), 486-489. doi:10.1093/humrep/deh12449.
Smits, G., Olatunbosun, O., Delbaere, A., Pierson, R., Vassart, G., & Costagliola, S. (2003). Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. The New England journal of medicine, 349(8), 760-766. doi:10.1056/NEJMoa03006450.
Smits, G., Campillo, M., Govaerts, C., Janssens, V., Richter, C., Vassart, G., Pardo, L., & Costagliola, S. (2003). Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity. EMBO journal, 22(11), 2692-2703. doi:10.1093/emboj/cdg26051.
Smits, G., Govaerts, C., Nubourgh, I., Pardo, L., Vassart, G., & Costagliola, S. (2002). Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and human CG. Molecular endocrinology, 16(4), 722-735.52.
Costagliola, S., Panneels, V., Bonomi, M., Koch, J., Many, M.-C., Smits, G., & Vassart, G. (2002). Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors. EMBO journal, 21(4), 504-513. doi:10.1093/emboj/21.4.504 Rapports de recherche, comptes rendus, lettres à l'éditeur, working papers (2)
1.
D'Alva, C. B., Serafini, P., Motta, E., Latronico, A. C., Mendonca, B. B., Daelemans, C., Smits, G., De Maertelaer, V., Costagliola, S., Englert, Y., Vassart, G., & Delbaere, A. (2005). Letter re: FSH receptor polymorphisms and iatrogenic ovarian hyperstimulation [1] (multiple letters). The Journal of clinical endocrinology and metabolism, 90(8), 4978-4979. doi:10.1210/jc.2005-06502.
Daelemans, C., Smits, G., De Maertelaer, V., Costagliola, S., Englert, Y., Vassart, G., & Delbaere, A. (2005). Author’s response: Severity of iatrogenic ovarian hyperstimulation syndrome (OHSS) can be predicted by N680allele of FSH receptor. The Journal of clinical endocrinology and metabolism, 90, 4978-4979. Participations à des congrès et colloques internationaux (31)
1.
Gravel, B., Renaux, A., Papadimitriou, S., Smits, G., Nowé, A., & Lenaerts, T. (2024). Prioritization of variant combinations in whole exomes. Abstract session presented at European Conference on Computational Biology.(23: 16/09-20/09/2024: Turku, Finland)2.
Gravel, B., Papadimitriou, S., Nachtegael, C., De Baere, E., Loeys, B., Vikkula, M., Smits, G., & Lenaerts, T. (2023). The importance of good data quality and proper pathogenicity reporting in the medical genetics field: the case of oligogenic diseases. Abstract session presented at Genomics of Rare Disease(17: 24-26/04/2023: Wellcome Genome Campus, UK)3.
Nachtegael, C., Papadimitriou, S., Gravel, B., De Baere, E., Loeys, B., Vikkula, M., Smits, G., & Lenaerts, T. (2023). The importance of good data quality and proper pathogenicity reporting in the medical genetics field: the case of oligogenic diseases. Abstract session presented at Annual Biocuration Conference(16: 24-26/04/2023: Padua, Italie)