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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: brissot p. 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. Expert Rev Mol Diagn. 2010 Sep;10(6):755-63. doi: 10.1586/erm.10.55. Expert Rev Mol Diagn. 2010. PMID: 20843199 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: brissot p, brissot e. 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
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: brissot p. 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.
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: brissot p. 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
334 results