-
1
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [see comments]
-
J.N. Feder A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [see comments] Nat. Genet. 13 1996 399 408
-
(1996)
Nat. Genet.
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
-
2
-
-
0344514886
-
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
-
G. Biasiotto Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload Clin. Chem. 49 2003 1981 1988
-
(2003)
Clin. Chem.
, vol.49
, pp. 1981-1988
-
-
Biasiotto, G.1
-
3
-
-
0036461322
-
A previously undescribed nonsense mutation of the HFE gene
-
E. Beutler, M.J. Griffin, T. Gelbart, and C. West A previously undescribed nonsense mutation of the HFE gene Clin. Genet. 61 2002 40 42
-
(2002)
Clin. Genet.
, vol.61
, pp. 40-42
-
-
Beutler, E.1
Griffin, M.J.2
Gelbart, T.3
West, C.4
-
4
-
-
0033150066
-
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
-
J.C. Barton, R. Sawada-Hirai, B.E. Rothenberg, and R.T. Acton Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands Blood Cells, Mol. Dis. 25 1999 147 155
-
(1999)
Blood Cells, Mol. Dis.
, vol.25
, pp. 147-155
-
-
Barton, J.C.1
Sawada-Hirai, R.2
Rothenberg, B.E.3
Acton, R.T.4
-
5
-
-
1442306702
-
Non-HFE hemochromatosis [Review] [72 refs]
-
A. Pietrangelo Non-HFE hemochromatosis [Review] [72 refs] Hepatology 39 2004 21 29
-
(2004)
Hepatology
, vol.39
, pp. 21-29
-
-
Pietrangelo, A.1
-
6
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
G. Papanikolaou Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis Nat. Genet. 36 2004 77 82
-
(2004)
Nat. Genet.
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
-
7
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
A. Roetto Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis Nat. Genet. 33 2003 21 22
-
(2003)
Nat. Genet.
, vol.33
, pp. 21-22
-
-
Roetto, A.1
-
8
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
C. Camaschella The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 Nat. Genet. 25 2000 14 15
-
(2000)
Nat. Genet.
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
-
9
-
-
18744400781
-
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
-
M. Cazzola Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) Br. J. Haematol. 119 2002 539 546
-
(2002)
Br. J. Haematol.
, vol.119
, pp. 539-546
-
-
Cazzola, M.1
-
10
-
-
0037100382
-
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
-
V. Devalia Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3) Blood 100 2002 695 697
-
(2002)
Blood
, vol.100
, pp. 695-697
-
-
Devalia, V.1
-
11
-
-
10744219904
-
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
-
A.M. Jouanolle Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload J. Hepatol. 39 2003 286 289
-
(2003)
J. Hepatol.
, vol.39
, pp. 286-289
-
-
Jouanolle, A.M.1
-
12
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene [see comment]
-
G. Montosi Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene [see comment] J. Clin. Invest. 108 2001 619 623
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 619-623
-
-
Montosi, G.1
-
13
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
O.T. Njajou A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis Nat. Genet. 28 2001 213 214
-
(2001)
Nat. Genet.
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
-
14
-
-
0038536855
-
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family
-
S.R. Rivard Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family Haematologica 88 2003 824 826
-
(2003)
Haematologica
, vol.88
, pp. 824-826
-
-
Rivard, S.R.1
-
15
-
-
0037100383
-
A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4
-
A. Roetto A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4 Blood 100 2002 733 734
-
(2002)
Blood
, vol.100
, pp. 733-734
-
-
Roetto, A.1
-
16
-
-
0037100517
-
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
-
D.F. Wallace Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis Blood 100 2002 692 694
-
(2002)
Blood
, vol.100
, pp. 692-694
-
-
Wallace, D.F.1
-
17
-
-
0242724153
-
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
-
E. Beutler Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans Blood Cells, Mol. Dis. 31 2003 305 309
-
(2003)
Blood Cells, Mol. Dis.
, vol.31
, pp. 305-309
-
-
Beutler, E.1
-
18
-
-
0037962795
-
The orchestration of body iron intake: How and where do enterocytes receive their cues? [Review] [79 refs]
-
D.M. Frazer, and G.J. Anderson The orchestration of body iron intake: how and where do enterocytes receive their cues? [Review] [79 refs] Blood Cells, Mol. Dis. 30 2003 288 297
-
(2003)
Blood Cells, Mol. Dis.
, vol.30
, pp. 288-297
-
-
Frazer, D.M.1
Anderson, G.J.2
-
19
-
-
0034883373
-
Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function, gain in understanding [comment]
-
R.E. Fleming, and W.S. Sly Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding [comment] J. Clin. Invest. 108 2001 521 522
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 521-522
-
-
Fleming, R.E.1
Sly, W.S.2
-
20
-
-
0035206994
-
A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
-
P.L. Lee, T. Gelbart, C. West, C. Halloran, V. Felitti, and E. Beutler A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin Blood Cells, Mol. Dis. 27 2001 783 802
-
(2001)
Blood Cells, Mol. Dis.
, vol.27
, pp. 783-802
-
-
Lee, P.L.1
Gelbart, T.2
West, C.3
Halloran, C.4
Felitti, V.5
Beutler, E.6
-
21
-
-
0037860450
-
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
-
G. Hetet, I. Devaux, N. Soufir, B. Grandchamp, and C. Beaumont Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations Blood 102 2003 1904 1910
-
(2003)
Blood
, vol.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
Grandchamp, B.4
Beaumont, C.5
-
22
-
-
13844273487
-
Molecular diagnosis of the first ferroportin mutation (C326Y) in the far east causing a dominant form of inherited iron overload
-
V. Viprakasit Molecular diagnosis of the first ferroportin mutation (C326Y) in the far east causing a dominant form of inherited iron overload Blood 104 11 2004 875a (Ref Type: Abstract)
-
(2004)
Blood
, vol.104
, Issue.11
-
-
Viprakasit, V.1
-
23
-
-
0037622887
-
A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient
-
K.E. Arden A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient Gut 52 2003 1215 1217
-
(2003)
Gut
, vol.52
, pp. 1215-1217
-
-
Arden, K.E.1
-
24
-
-
10844258104
-
Hepcidin regulates iron efflux by binding to ferroportin and inducing its internalization
-
E. Nemeth Hepcidin regulates iron efflux by binding to ferroportin and inducing its internalization Science 306 2004 2090 2093 (Ref Type: Journal (Full))
-
(2004)
Science
, vol.306
, pp. 2090-2093
-
-
Nemeth, E.1
|