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Page 1
Iron refractory iron deficiency anemia.
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. De Falco L, et al. Among authors: beaumont c. Haematologica. 2013 Jun;98(6):845-53. doi: 10.3324/haematol.2012.075515. Haematologica. 2013. PMID: 23729726 Free PMC article. Review.
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M. De Falco L, et al. Among authors: beaumont c. Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25156943
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A. Kannengiesser C, et al. Among authors: beaumont c. Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10. Haematologica. 2011. PMID: 21393332 Free PMC article.
Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.
Millot S, Delaby C, Moulouel B, Lefebvre T, Pilard N, Ducrot N, Ged C, Lettéron P, de Franceschi L, Deybach JC, Beaumont C, Gouya L, De Verneuil H, Lyoumi S, Puy H, Karim Z. Millot S, et al. Among authors: beaumont c. Haematologica. 2017 Feb;102(2):260-270. doi: 10.3324/haematol.2016.151621. Epub 2016 Nov 10. Haematologica. 2017. PMID: 28143953 Free PMC article.
Natural history of recessive inheritance of DMT1 mutations.
Iolascon A, Camaschella C, Pospisilova D, Piscopo C, Tchernia G, Beaumont C. Iolascon A, et al. Among authors: beaumont c. J Pediatr. 2008 Jan;152(1):136-9. doi: 10.1016/j.jpeds.2007.08.041. J Pediatr. 2008. PMID: 18154916
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: beaumont c. Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27. Haematologica. 2009. PMID: 19176363 Free PMC article.
Not all DMT1 mutations lead to iron overload.
Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C. Blanco E, et al. Among authors: beaumont c. Blood Cells Mol Dis. 2009 Sep-Oct;43(2):199-201. doi: 10.1016/j.bcmd.2009.05.003. Epub 2009 Jun 24. Blood Cells Mol Dis. 2009. PMID: 19553145
363 results