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Janin Nicolas

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Main Referenced Co-authors
Caron, Olivier (3)
Leroux, Dominique (3)
Thomas, Luc (3)
Vabres, Pierre (3)
Andrieu, N. (2)
Main Referenced Keywords
Female (6); Humans (6); Pedigree (5); Male (4); Adult (3);
Main Referenced Disciplines
Genetics & genetic processes (7)
Oncology (2)
Neurology (1)
Pediatrics (1)
Agriculture & agronomy (1)

Publications (total 11)

The most downloaded
1116 downloads
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. https://hdl.handle.net/2268/85226

The most cited

421 citations (Scopus®)

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 https://hdl.handle.net/2268/110233

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

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