Detalhe da pesquisa
1.
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Gastroenterology
; 150(3): 672-683.e4, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26582087
2.
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Am J Hematol
; 91(12): 1202-1205, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27518069
3.
Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis.
J Hepatol
; 62(3): 682-9, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25450707
4.
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
J Hepatol
; 62(3): 664-72, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25457201
5.
Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
Blood Cells Mol Dis
; 54(2): 151-4, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25486930
6.
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.
Hum Mutat
; 34(11): 1529-36, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23943237
7.
Sex and acquired cofactors determine phenotypes of ferroportin disease.
Gastroenterology
; 140(4): 1199-1207.e1-2, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21199650
8.
[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France]. / Recommandations pour la (bonne) pratique du diagnostic moléculaire de l'hémochromatose liée au gène HFE. Synthesed'une enquete realisee aupres du reseau national des laboratoires pratiquant le disgnostic de maladies rares du metabolisme du fer.
Ann Biol Clin (Paris)
; 70(3): 305-13, 2012.
Artigo
Francês
| MEDLINE | ID: mdl-22565179
9.
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.
Blood Cells Mol Dis
; 47(4): 243-8, 2011 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21871825
10.
Monoclonal anti-transferrin antibody: a paradigm for better understanding of iron metabolism.
Am J Hematol
; 90(6): E129-30, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25779881
11.
A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
Haematologica
; 94(5): 720-4, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19286879
12.
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
Haematologica
; 94(3): 335-9, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19176363
13.
Current approach to hemochromatosis.
Blood Rev
; 22(4): 195-210, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18430498
14.
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
Br J Haematol
; 162(2): 278-81, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23600741
15.
[Screening for hereditary HFE hemochromatosis]. / Dépistage de l'hémochromatose génétique HFE.
Presse Med
; 36(9 Pt 2): 1292-4, 2007 Sep.
Artigo
Francês
| MEDLINE | ID: mdl-17544612
16.
[Pathophysiology and genetics of classic HFE (type 1) hemochromatosis]. / Physiopathologie et génétique de l'hémochromatose HFE de type 1.
Presse Med
; 36(9 Pt 2): 1271-7, 2007 Sep.
Artigo
Francês
| MEDLINE | ID: mdl-17521857
17.
Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload?
Blood
; 114(11): 2360-1, 2009 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-19745082
18.
[Diagnosis of iron overload]. / Diagnostic d'une surcharge en fer.
Rev Prat
; 56(19): 2118-22, 2006 Dec 15.
Artigo
Francês
| MEDLINE | ID: mdl-17416048
19.
[Genetic iron overload diseases: a deeply changing world]. / Les surcharges génétiques en fer: un monde en pleine mutation.
Nephrol Ther
; 2 Suppl 5: S298-303, 2006 Nov.
Artigo
Francês
| MEDLINE | ID: mdl-17373274
20.
[Human iron metabolism]. / Le métabolisme du fer chez l'homme.
Bull Acad Natl Med
; 189(8): 1635-47; discussion 1647, 2005 Nov.
Artigo
Francês
| MEDLINE | ID: mdl-16737091