Bertolotto, C., Lesueur, F., Giuliano, S., Strub, T., de Lichy, M., Bille, K., Dessen, P., d'Hayer, B., Mohamdi, H., Remenieras, A., Maubec, E., de la Fouchardiere, A., Molinie, V., Vabres, P., Dalle, S., Poulalhon, N., Martin-Denavit, T., Thomas, L., Andry-Benzaquen, P., ... Bressac-de Paillerets, B. (2011). A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature, 480 (7375), 94-8. doi:10.1038/nature10539 Peer Reviewed verified by ORBi |
Gardie, B., Remenieras, A., Kattygnarath, D., Bombled, J., Lefevre, S., Perrier-Trudova, V., Rustin, P., Barrois, M., Slama, A., Avril, M.-F., Bessis, D., Caron, O., Caux, F., Collignon, P., Coupier, I., Cremin, C., Dollfus, H., Dugast, C., Escudier, B., ... Richard, S. (2011). Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Journal of Medical Genetics, 48 (4), 226-34. doi:10.1136/jmg.2010.085068 Peer Reviewed verified by ORBi |
Bourguignont, A., Blaise, P., Janin, N., & Rakic, J.-M. (2010). Le cas clinique du mois. A propos d'un cas de maladie de von Hippel-Lindau. Revue Médicale de Liège, 65 (2), 62-6. Peer reviewed |
De Brakeleer, S., De Greve, J., Loris, R., Janin, N., Lissens, W., Sermijn, E., & Teugels, E. (2010). Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Human Mutation, 31 (3), 1175-85. doi:10.1002/humu.21200 Peer Reviewed verified by ORBi |
Mutesa, L., Pierquin, G., Janin, N., Segers, K., Thomee, C., Provenzi, M., & Bours, V. (2008). Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genetics and Cytogenetics, 182 (1), 40-2. doi:10.1016/j.cancergencyto.2007.12.005 Peer Reviewed verified by ORBi |
Ouyang, Y., SEGERS, K., BOUQUIAUX, O., WANG, F.-C., JANIN, N., ANDRIS, C., Shimazaki, H., Sakoe, K., Nakano, I., & Takiyama, Y. (2008). Novel SACS mutation in a Belgian family with sacsin-related ataxia. Journal of the Neurological Sciences, 264 (1-2), 73-6. doi:10.1016/j.jns.2007.07.022 Peer Reviewed verified by ORBi |
Lesueur, F., de Lichy, M., Barrois, M., Durand, G., Bombled, J., Avril, M.-F., Chompret, A., Boitier, F., Lenoir, G. M., Bressac-de Paillerets, B., Baccard, M., Bachollet, B., Berthet, P., Bonadona, V., Bonnetblanc, J.-M., Caron, O., Chevrant-Breton, J., Cuny, J.-F., Dalle, S., ... Zattara, H. (2008). The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. British Journal of Cancer, 99 (2), 364-70. doi:10.1038/sj.bjc.6604470 Peer Reviewed verified by ORBi |
Monnerat, C., Chompret, A., Kannengiesser, C., Avril, M. F., Janin, N., Spatz, A., Guinebretiere, J. M., Marian, C., Barrois, M., Boitier, F., Lenoir, G. M., & Paillerets, B. B. D. (December 2007). BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. Familial Cancer, 6 (4), 453-461. doi:10.1007/s10689-007-9143-y Peer Reviewed verified by ORBi |
d'Almeida, A. K., Cavaciuti, E., Dondon, M. G., Lauge, A., Janin, N., Stoppa-Lyonnet, D., & Andrieu, N. (19 September 2005). Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship? British Journal of Cancer, 93 (6), 730-732. doi:10.1038/sj.bjc.6602786 Peer Reviewed verified by ORBi |
Blaise, P., Fumal, A., Janin, N., Verloes, A., Moonen, G., & Andris, C. (February 2005). Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy. Journal of Neurology, 252 (2), 232-233. doi:10.1007/s00415-005-0615-4 Peer Reviewed verified by ORBi |
Andrieu, N., Cavaciuti, E., Lauge, A., Ossian, K., Janin, N., Hall, J., & Stoppa-Lyonnet, D. (2005). Ataxia-telangiectasia genes and breast cancer risk in a French family study. Journal of Dairy Research, 72 (Sp. Iss. SI), 73-80. doi:10.1017/S0022029905001147 Peer Reviewed verified by ORBi |