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Novel SACS mutation in a Belgian family with sacsin-related ataxia.
Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y. Ouyang Y, et al. Among authors: janin n. J Neurol Sci. 2008 Jan 15;264(1-2):73-6. doi: 10.1016/j.jns.2007.07.022. Epub 2007 Aug 22. J Neurol Sci. 2008. PMID: 17716690
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B. Lenglet M, et al. Among authors: janin n. Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11. Blood. 2018. PMID: 29891534 Free article.
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.
Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d'Enghien CD, Laugé A, Dondon MG, Labbé M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker JP, Dahan K, Bay JO, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combès A, Coupier I; CoF-AT study collaborators; Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Renault AL, et al. Among authors: janin n. Carcinogenesis. 2017 Oct 1;38(10):994-1003. doi: 10.1093/carcin/bgx074. Carcinogenesis. 2017. PMID: 28981872 Free PMC article.
62 results