Surcharges en fer héréditaires non liées au gène HFE : Hémochromatose = Non-HFE-related hereditary iron overloadAGUILAR-MARTINEZ, Patricia.La Presse médicale (1983). 2007, Vol 36, Num 9, pp 1279-1291, issn 0755-4982, 13 p., CAH2Article

Vers une classification raisonnée des surcharges en fer et des hyperferritinémies d'origine génétique = Towards a rational classification of hereditary iron overload and hyperferritinaemiaAGUILAR MARTINEZ, Patricia; SCHVED, Jean-Francois.Hématologie (Montrouge). 2004, Vol 10, Num 4, pp 275-285, issn 1264-7527, 11 p.Article

L'hémochromatose héréditaire = Hereditary haemochromatosisBISMUTH, Michael; AGUILAR-MARTINEZ, Patricia; MICHEL, Henri et al.La Presse médicale (1983). 2003, Vol 32, Num 36, pp 1716-1723, issn 0755-4982, 8 p.Article

The evaluation of hyperferritinemia : An updated strategy based on advances in detecting genetic abnormalitiesAGUILAR-MARTINEZ, Patricia; SCHVED, Jean-Francois; BRISSOT, Pierre et al.The American journal of gastroenterology. 2005, Vol 100, Num 5, pp 1185-1194, issn 0002-9270, 10 p.Article

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiencyGIANSILY-BLAIZOT, Muriel; AGUILAR-MARTINEZ, Patricia; SCHVED, Jean-Francois et al.Haematologica (Roma). 2002, Vol 87, Num 3, pp 328-329, issn 0390-6078Article

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

Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndromeGIANSILY, Muriel; BEAUMONT, Carole; DESVEAUX, Cyrille et al.British journal of haematology. 2001, Vol 112, Num 1, pp 51-54, issn 0007-1048Article

L'hémochromatose génétique, le point de vue du clinicien = Hereditary hemochromatosis, the clinician point of viewCORBERAND, Joël; AGUILAR MARTINEZ, Patricia; VINEL, Jean-Pierre et al.Annales de biologie clinique (Paris). 2012, Vol 70, Num 4, pp 397-403, issn 0003-3898, 7 p.Article

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP geneMATTHES, Thomas; AGUILAR-MARTINEZ, Patricia; PIZZI-BOSMAN, Loredana et al.Blood. 2004, Vol 104, Num 7, pp 2181-2183, issn 0006-4971, 3 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

Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop)GIANSILY-BLAIZOT, Muriel; AGUILAR-MARTINEZ, Patricia; BRIQUEL, Marie-Elisabeth et al.Blood coagulation & fibrinolysis. 2003, Vol 14, Num 2, pp 217-220, issn 0957-5235, 4 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

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT 1 deficiency syndromeFLATT, Joanna F; GUIZOUARN, Hélène; DELAUNAY, Jean et al.Blood. 2011, Vol 118, Num 19, pp 5267-5277, issn 0006-4971, 11 p.Article

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

Analysis of remnant reticulocyte mRNA reveals new genes and antisense transcripts expressed in the human erythroid lineageBONAFOUX, Béatrice; LEJEUNE, Mireille; PIQUEMAL, David et al.Haematologica (Roma). 2004, Vol 89, Num 12, pp 1434-1440, issn 0390-6078, 7 p.Article

Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleedingGIANSILY-BLAIZOT, Muriel; BIRON-ANDREANI, Christine; GAY, Valerie et al.British journal of haematology. 2002, Vol 117, Num 1, pp 172-175, issn 0007-1048Article

Prevalence of HFE mutations in people from North Africa living in southern FranceAGUILAR-MARTINEZ, Patricia; PICOT, Marie-Christine; SCHVED, Jean-Francois et al.British journal of haematology. 2001, Vol 114, Num 4, pp 914-916, issn 0007-1048Article

Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysisGIANSILY-BLAIZOT, Muriel; AGUILAR-MARTINEZ, Patricia; MAZURIER, Claudine et al.British journal of haematology. 2001, Vol 112, Num 1, pp 251-252, issn 0007-1048Article

Recommandations pour la (bonne) pratique du diagnostic moléculaire de l'hémochromatose liée au gène HFE* Synthèse d'une enquête réalisée auprès du réseau national des laboratoires pratiquant le diagnostic de maladies rares du métabolisme du fer = Molecular diagnosis of HFE mutations in routine laboratories Results of a survey from reference laboratories in FranceJOUANOLLE, Anne-Marie; GEROLAMI, Victoria; GED, Cécile et al.Annales de biologie clinique (Paris). 2012, Vol 70, Num 3, pp 305-313, issn 0003-3898, 9 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

Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies = Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathiesAGUILAR-MARTINEZ, Patricia; BADENS, Catherine; ROCHETTE, Jacques et al.Annales de biologie clinique (Paris). 2010, Vol 68, Num 4, pp 455-464, issn 0003-3898, 10 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

Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunctionFRICKE, Britta; JARVIS, Helen G; MENTZER, William C et al.British journal of haematology. 2004, Vol 125, Num 6, pp 796-803, issn 0007-1048, 8 p.Article