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Molecular diagnosis of genetic iron-overload disorders.
Brissot P, Bardou-Jacquet E, Troadec MB, Mosser A, Island ML, Detivaud L, Loréal O, Jouanolle AM. Brissot P, et al. Among authors: detivaud l. Expert Rev Mol Diagn. 2010 Sep;10(6):755-63. doi: 10.1586/erm.10.55. Expert Rev Mol Diagn. 2010. PMID: 20843199 Review.
Sex and acquired cofactors determine phenotypes of ferroportin disease.
Le Lan C, Mosser A, Ropert M, Detivaud L, Loustaud-Ratti V, Vital-Durand D, Roget L, Bardou-Jacquet E, Turlin B, David V, Loréal O, Deugnier Y, Brissot P, Jouanolle AM. Le Lan C, et al. Among authors: detivaud l. Gastroenterology. 2011 Apr;140(4):1199-1207.e1-2. doi: 10.1053/j.gastro.2010.12.049. Epub 2011 Jan 1. Gastroenterology. 2011. PMID: 21199650
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
Bardou-Jacquet E, Island ML, Jouanolle AM, Détivaud L, Fatih N, Ropert M, Brissot E, Mosser A, Maisonneuve H, Brissot P, Loréal O. Bardou-Jacquet E, et al. Among authors: detivaud l. Blood Cells Mol Dis. 2011 Dec 15;47(4):243-8. doi: 10.1016/j.bcmd.2011.07.004. Epub 2011 Aug 26. Blood Cells Mol Dis. 2011. PMID: 21871825
Anemia in beta-thalassemia patients targets hepatic hepcidin transcript levels independently of iron metabolism genes controlling hepcidin expression.
Camberlein E, Zanninelli G, Détivaud L, Lizzi AR, Sorrentino F, Vacquer S, Troadec MB, Angelucci E, Abgueguen E, Loréal O, Cianciulli P, Lai ME, Brissot P. Camberlein E, et al. Among authors: detivaud l. Haematologica. 2008 Jan;93(1):111-5. doi: 10.3324/haematol.11656. Haematologica. 2008. PMID: 18166793 Free article.
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E. Hamdi-Rozé H, et al. Among authors: detivaud l. Blood Cells Mol Dis. 2019 Feb;74:30-33. doi: 10.1016/j.bcmd.2018.10.006. Epub 2018 Oct 22. Blood Cells Mol Dis. 2019. PMID: 30389309 Free article.
A simple clinical score to promote and enhance ferroportin disease screening.
Landemaine A, Hamdi-Roze H, Cunat S, Loustaud-Ratti V, Causse X, Si Ahmed SN, Drénou B, Bureau C, Pelletier G, De Kerguenec C, Ganne-Carrie N, Durupt S, Laine F, Loréal O, Ropert M, Detivaud L, Morcet J, Aguilar-Martinez P, Deugnier YM, Bardou-Jacquet E. Landemaine A, et al. Among authors: detivaud l. J Hepatol. 2022 Mar;76(3):568-576. doi: 10.1016/j.jhep.2021.10.022. Epub 2021 Nov 5. J Hepatol. 2022. PMID: 34748893 Free article.
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