Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern FranceDU-THANH, Aurélie; AGUILAR-MARTINEZ, Patricia; CUNAT, Séverine et al.Acta dermato-venereologica. 2011, Vol 91, Num 1, pp 66-67, issn 0001-5555, 2 p.Article

Absence of Functional Mutations in the Ferroportin-encoding SLC40A1 Gene in Porphyria Cutanea Tarda: A Series of 37 Cases from Southern FranceDU THANH, Aurélie; MARTINEZ, Patricia; CUNAT, Severine et al.Acta dermato-venereologica. 2011, Vol 91, Num 4, issn 0001-5555, p. 467Article

A novel mutation of the β-globin gene promoter (-102 C>A) and pitfalls in family screeningAGUILAR-MARTINEZ, Patricia; JOURDAN, Eric; BRUN, Sophie et al.American journal of hematology. 2007, Vol 82, Num 12, pp 1088-1090, issn 0361-8609, 3 p.Article

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variantsAGUILAR-MARTINEZ, Patricia; GRANDCHAMP, Bernard; CUNAT, Séverine et al.Haematologica (Roma). 2011, Vol 96, Num 4, pp 507-514, issn 0390-6078, 8 p.Article

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overloadAGUILAR-MARTINEZ, Patricia; GIANSILY-BLAIZOT, Muriel; BISMUTH, Michael et al.Haematologica (Roma). 2010, Vol 95, Num 4, pp 687-688, issn 0390-6078, 2 p.Article

Global Sequencing Approach for Characterizing the Molecular Background of Hereditary Iron DisordersCUNAT, Séverine; GIANSILY-BLAIZOT, Muriel; RENARD, Eric et al.Clinical chemistry (Baltimore, Md.). 2007, Vol 53, Num 12, pp 2060-2069, issn 0009-9147, 10 p.Article

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observationsBARDOU-JACQUET, Edouard; CUNAT, Severine; AGUILAR-MARTINEZ, Patricia et al.British journal of haematology. 2013, Vol 162, Num 2, pp 278-281, issn 0007-1048, 4 p.Article

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetranceAGUILAR-MARTINEZ, Patricia; BISMUTH, Michael; LARREY, Dominique et al.Haematologica (Roma). 2010, Vol 95, Num 4, pp 551-556, issn 0390-6078, 6 p.Article