Articles dans des revues avec comité de lecture (150)
  1. 10. Chomette, L., Caravita, S., Dewachter, C., Abramowicz, M., Vachiery, J.-L., & Bondue, A. (2021). Pulmonary arterial hypertension-associated genetic variants in combined post-capillary and pre-capillary pulmonary hypertension: a case report. Pulmonary circulation, 11(1), PMID: 33738094. doi:10.1177/2045894021996571
  2. 11. Jacquemin, V., Antoine, M., Duerinckx, S., Massart, A., Désir, J., Perazzolo, C., Cassart, M., Thomas, D., Segers, V., Lecomte, S., Abramowicz, M., & Pirson, I. (2020). TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly. Human molecular genetics. doi:10.1093/hmg/ddaa245
  3. 12. Chomette, L., Caravita, S., Dewachter, C., Abramowicz, M., Vachiery, J.-L., & Bondue, A. (2020). Genetic Profiling of Combined Post-Capillary and Pre-Capillary Pulmonary Hypertension in Left Heart Diseases. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation, 39(4), S512. doi:10.1016/j.healun.2020.01.130
  4. 13. Duerinckx, S., Jacquemin, V., Drunat, S., Vial, Y., Passemard, S., Perazzolo, C., Massart, A., Soblet, J., Racapé, J., Desmyter, L., Badoer, C., Papadimitriou, S., Le Borgne, Y.-A., Lefort, A., Libert, F., De Maertelaer, V., Rooman, M., Costagliola, S., Verloes, A., Lenaerts, T., Pirson, I., & Abramowicz, M. (2020). Digenic inheritance of human primary microcephaly delineates centrosomal and non centrosomal pathways. Human mutation, 41(2), 512-524. doi:10.1002/humu.23948
  5. 14. Spilleboudt, C., De Wilde, V., Lewalle, P., Cabanne, L., Leclerc, M., Beckerich, F., Bories, D., Cardoso, S., Soares, M. P., Vokaer, B., Hougardy, J.-M., Flamand, V., Racapé, J., Abramowicz, M., Maury, S., & Le Moine, A. (2020). Donor-Derived Myeloid Heme Oxygenase-1 Controls the Development of Graft-Versus-Host Disease. Frontiers in immunology, 11, 579151. doi:10.3389/fimmu.2020.579151
  6. 15. Polla, D. L., Rahikkala, E., Bode, M. M., Määttä, T., Varilo, T., Loman, T., Philips, A. A., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. A., Kuismin, O., van Bokhoven, H., & Järvelä, I. (2019). Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. European journal of human genetics. doi:10.1038/s41431-019-0383-8
  7. 16. Amininejad, L., Charloteaux, B., Theatre, E., Liefferinckx, C., Dmitrieva, J., Hayard, P., Muls, V., Maisin, J. M. G., Schapira, M., Ghislain, J. M., Closset, P., Talib, E. M., Abramowicz, M., Momozawa, Y., Deffontaine, V., Crins, F., Mni, M., Karim, L., Cambisano, N., Ornemese, S., Zucchi, A., Minsart, C., Devière, J., Hugot, J.-P., De Vos, M., Louis, E., Vermeire, S., Van Gossum, A., Coppieters, W., Twizere, J.-C., Georges, M., & Franchimont, D. (2018). Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease. Gastroenterology, 154(8), 2165-2177. doi:10.1053/j.gastro.2018.02.028
  8. 17. Duerinckx, S., Meuwissen, M. E. C., Perazzolo, C., Desmyter, L., Pirson, I., & Abramowicz, M. (2018). Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Molecular genetics & genomic medicine. doi:10.1002/mgg3.400
  9. 18. Létard, P., Drunat, S., Vial, Y., Duerinckx, S., Ernault, A., Amram, D., Arpin, S., Bertoli, M., Busa, T., Ceulemans, B., Desir, J., Doco-Fenzy, M., Elalaoui, S. C., Devriendt, K., Faivre, L., Francannet, C., Geneviève, D., Gérard, M., Gitiaux, C., Julia, S., Lebon, S., Lubala, T., Mathieu-Dramard, M., Maurey, H., Metreau, J., Nasserereddine, S., Nizon, M., Pierquin, G., Pouvreau, N., Rivier-Ringenbach, C., Rossi, M., Schaefer, E., Sefiani, A., Sigaudy, S., Sznajer, Y., Tunca, Y., Guilmin Crepon, S., Alberti, C., Elmaleh-Bergès, M., Benzacken, B., Wollnick, B., Woods, C. G., Rauch, A., Abramowicz, M., El Ghouzzi, V., Gressens, P., Verloes, A., & Passemard, S. (2018). Autosomal recessive primary microcephaly due to ASPM mutations: An update. Human mutation, 39(3), 319-332. doi:10.1002/humu.23381
  10. 19. Remiche, G., Lukacs, Z., Kasper, D. D., Abramowicz, M., & Pandolfo, M. (2018). Low prevalence estimates of late-onset glycogen storage disease type II in French-speaking Belgium are not due to missed diagnoses. Journal of clinical neuromuscular disease, 5(4), 471-480. doi:10.3233/JND-180336
  11. 20. Patel, K. A., Kettunen, J., Laakso, M., Stancakova, A., Laver, T. T., Colclough, K., Johnson, M. B., Abramowicz, M., Groop, L., Miettinen, P. P., Shepherd, M. H., Flanagan, S. E., Ellard, S., Inagaki, N., Hattersley, A. T., Tuomi, T., Cnop, M., & Weedon, M. N. (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nature communications, 8(1), 888. doi:10.1038/s41467-017-00895-9
  12. 21. Duerinckx, S., & Abramowicz, M. (2017). The genetics of congenitally small brains. Seminars in cell & developmental biology. doi:10.1016/j.semcdb.2017.09.015
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