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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: mosser a. 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: mosser a. 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
[Pathophysiology and genetics of classic HFE (type 1) hemochromatosis].
Loréal O, Ropert M, Mosser A, Déhais V, Deugnier Y, David V, Brissot P, Jouanolle AM. Loréal O, et al. Among authors: mosser a. Presse Med. 2007 Sep;36(9 Pt 2):1271-7. doi: 10.1016/j.lpm.2007.03.038. Epub 2007 May 22. Presse Med. 2007. PMID: 17521857 Review. French.
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: mosser a. Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27. Haematologica. 2009. PMID: 19176363 Free PMC 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: mosser a. 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
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium.
Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ, Jouanolle AM, Mosser A, David V, Le Gall JY, Halsall DJ, Elsey TS, Kelly A, Cox TM, Clare M, Bomford A, Vandwalle JL, Rochette J, Borot N, Coppin H, Roth MP, Ryan E, Crowe J, Totaro A, Gasparini P, Roetto A, Walker AP, et al. Merryweather-Clarke AT, et al. Among authors: mosser a. Nat Genet. 1999 Nov;23(3):271. doi: 10.1038/15452. Nat Genet. 1999. PMID: 10545942 No abstract available.
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Livesey KJ, Wimhurst VL, Carter K, Worwood M, Cadet E, Rochette J, Roberts AG, Pointon JJ, Merryweather-Clarke AT, Bassett ML, Jouanolle AM, Mosser A, David V, Poulton J, Robson KJ. Livesey KJ, et al. Among authors: mosser a. J Med Genet. 2004 Jan;41(1):6-10. doi: 10.1136/jmg.2003.008805. J Med Genet. 2004. PMID: 14729817 Free PMC article.
74 results