Articles dans des revues avec comité de lecture (148)
  1. 34. Depondt, C., Donatello, S., Simonis, N., Rai, M., Van Heurck, R., Abramowicz, M., D'Hooghe, M., & Pandolfo, M. (2014). Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology. doi:10.1212/WNL.0000000000000416
  2. 35. Murray, L. S., Taggart, A., van Agtmael, T., Lu, Y., Kadler, K. K., Van Regemorter, N., Vilain, C., & Abramowicz, M. (2014). Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Human molecular genetics, 23(2), 283-292. doi:10.1093/hmg/ddt418
  3. 36. Dinic, M., Ghisdal, L., Racapé, J., Thibaudin, L., Gatault, P., Essig, M., Le Meur, Y., Noel, C., Touchard, G., Merville, P., Ajarchouh, Z., Mariat, C., Abramowicz, M., Abramowicz, D., & Alamartine, E. (2014). UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort. BMC nephrology, 15, 138. doi:10.1186/1471-2369-15-138
  4. 37. Revencu, N., Abramowicz, M., Désir, J., Vilain, C., et al. (2013). RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation. Human mutation, 34(12), 1632-1641. doi:10.1002/humu.22431
  5. 38. Remiche, G., Abramowicz, M., & Mavroudakis, N. (2013). Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. Acta neurologica belgica, 113(4), 519-522. doi:10.1007/s13760-013-0255-x
  6. 39. Simonis, N., Migeotte, I., Lambert, N., Perazzolo, C., de Silva, D. C., Dimitrov, B., Heinrichs, C., Janssens, S., Kerr, B., Mortier, G., Van Vliet, G., Lepage, P., Casimir, G., Abramowicz, M., Smits, G., & Vilain, C. (2013). FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. Journal of medical genetics, 50(9), 585-592. doi:10.1136/jmedgenet-2013-101603
  7. 40. Lemaire, A., Trepo, E., Ouziel, R., Gustot, T., Moreno, C., Degré, D., Minsart, C., Quertinmont, E., Vercruysse, V., De Wilde, V., Le Moine, O., Devière, J., Abramowicz, M., Le Moine, A., & Lemmers, A. (2013). Microsatellite polymorphism in the heme oxygenase-1 gene promoter is not associated with alcoholic liver disease severity. Hepatology, 59(1), 352-353. doi:10.1002/hep.26534
  8. 41. Plaisancié, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., Dollfus, H., Sigaudy, S., Guillén-Navarro, E., Verloes, A., Jonveaux, P., Martin-Coignard, D., Colin, E., Bieth, E., Calvas, P., & Chassaing, N. (2013). Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. American journal of medical genetics. Part A, 161(4), 671-678. doi:10.1002/ajmg.a.35747
  9. 42. Igoillo Esteve, M., Genin, A., Lambert, N., Désir, J., Pirson, I., Abdulkarim, B., Simonis, N., Drielsma, A., Marselli, L., Marchetti, P., Vanderhaeghen, P., Eizirik, D. L., Wuyts, W., Julier, C., Chakera, A. J., Ellard, S., Hattersley, A. T., Abramowicz, M., & Cnop, M. (2013). tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in human. PLoS genetics, 9. doi:10.1371/journal.pgen.1003888
  10. 43. Genin, A., Désir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., & Abramowicz, M. (2012). Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Human molecular genetics, 21(24), 5306-5317. doi:10.1093/hmg/dds386
  11. 44. Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., Thiele, H., Edwards, A., Arends, M., Miró, X., White, J. K., Désir, J., Abramowicz, M., Dentici, M. L., Lepri, F., Hofmann, K., Har-Zahav, A., Ryder, E., Karp, N., Estabel, J., Gerdin, A. K., Podrini, C., Ingham, N., Altmüller, J., Nürnberg, G., Frommolt, P., Abdelhak, S., Pasmanik-Chor, M., Konen, O., Kelley, R., Shohat, M., Nürnberg, P., Flint, J., Steel, K., Hoppe, T., Kubisch, C., Adams, D., & Borck, G. (2012). Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome. American journal of human genetics, 91(6), 998-1010. doi:10.1016/j.ajhg.2012.10.011
  12. 45. Drielsma, A., Jalas, C., Simonis, N., Désir, J., Simanovsky, N., Pirson, I., Elpeleg, O., Abramowicz, M., & Edvardson, S. (2012). Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. Journal of medical genetics, 49(11), 708-712. doi:10.1136/jmedgenet-2012-101190
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