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Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D. Daher R, et al. Among authors: jouanolle am. Gastroenterology. 2016 Mar;150(3):672-683.e4. doi: 10.1053/j.gastro.2015.10.049. Epub 2015 Nov 12. Gastroenterology. 2016. PMID: 26582087 Free article.
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
Kannengiesser C, Jouanolle AM, Hetet G, Mosser A, Muzeau F, Henry D, Bardou-Jacquet E, Mornet M, Brissot P, Deugnier Y, Grandchamp B, Beaumont C. Kannengiesser C, et al. Among authors: jouanolle am. Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27. Haematologica. 2009. PMID: 19176363 Free PMC article.
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.
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.
Current approach to hemochromatosis.
Brissot P, Troadec MB, Bardou-Jacquet E, Le Lan C, Jouanolle AM, Deugnier Y, Loréal O. Brissot P, et al. Among authors: jouanolle am. Blood Rev. 2008 Jul;22(4):195-210. doi: 10.1016/j.blre.2008.03.001. Epub 2008 Apr 21. Blood Rev. 2008. PMID: 18430498 Review.
78 results