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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: jouanolle am. 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: jouanolle am. 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
Iron disorders of genetic origin: a changing world.
Brissot P, Bardou-Jacquet E, Jouanolle AM, Loréal O. Brissot P, et al. Among authors: jouanolle am. Trends Mol Med. 2011 Dec;17(12):707-13. doi: 10.1016/j.molmed.2011.07.004. Epub 2011 Aug 20. Trends Mol Med. 2011. PMID: 21862411 Review.
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: jouanolle am. 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
Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P. Bardou-Jacquet E, et al. Among authors: jouanolle am. Clin Res Hepatol Gastroenterol. 2014 Apr;38(2):143-54. doi: 10.1016/j.clinre.2013.11.003. Epub 2013 Dec 8. Clin Res Hepatol Gastroenterol. 2014. PMID: 24321703 Free article. Review.
Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
Beaumont-Epinette MP, Delobel JB, Ropert M, Deugnier Y, Loréal O, Jouanolle AM, Brissot P, Bardou-Jacquet E. Beaumont-Epinette MP, et al. Among authors: jouanolle am. Blood Cells Mol Dis. 2015 Feb;54(2):151-4. doi: 10.1016/j.bcmd.2014.11.020. Epub 2014 Nov 26. Blood Cells Mol Dis. 2015. PMID: 25486930 Free article.
[Non-HFE related hereditary iron overload].
Brissot P, Jouanolle AM, Le Lan C, Loreal O, Deugnier Y, David V. Brissot P, et al. Among authors: jouanolle am. Gastroenterol Clin Biol. 2005 May;29(5):565-8. doi: 10.1016/s0399-8320(05)82130-x. Gastroenterol Clin Biol. 2005. PMID: 15980752 Free article. Review. French. No abstract available.
[Genetic iron overload diseases: a deeply changing world].
Brissot P, Troadec MB, Le Lan C, Lorho R, Gaboriau F, Lescoat G, Jouanolle AM, Loréal O. Brissot P, et al. Among authors: jouanolle am. Nephrol Ther. 2006 Nov;2 Suppl 5:S298-303. Nephrol Ther. 2006. PMID: 17373274 Review. French.
78 results