-
1
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
2
-
-
20044363619
-
Identification of the first human mutation of DMT1 (Nramp2) in a patient with microcytic anemia and iron overload
-
Prchal JT, Pospisilova D, Mims MP, et al. Identification of the first human mutation of DMT1 (Nramp2) in a patient with microcytic anemia and iron overload. Blood 2003;102(Suppl 1):754a.
-
(2003)
Blood
, vol.102
, Issue.SUPPL. 1
-
-
Prchal, J.T.1
Pospisilova, D.2
Mims, M.P.3
-
3
-
-
2542560427
-
Hereditary hemochromatosis - A new look to an old disease
-
Pietrangelo A. Hereditary hemochromatosis - A new look to an old disease. N Engl J Med 2004;350:2383-97.
-
(2004)
N Engl J Med
, vol.350
, pp. 2383-2397
-
-
Pietrangelo, A.1
-
4
-
-
0842283228
-
Non-invasive assessment of hepatic iron stores by MRI
-
Gandon Y, Olivié D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 2004;363:357-62.
-
(2004)
Lancet
, vol.363
, pp. 357-362
-
-
Gandon, Y.1
Olivié, D.2
Guyader, D.3
-
6
-
-
0033848697
-
EASL International Consensus Conference on Haemochromatosis
-
Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.
-
(2000)
J Hepatol
, vol.33
, pp. 485-504
-
-
Adams, P.1
Brissot, P.2
Powell, L.W.3
-
7
-
-
0022656390
-
Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis
-
Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology 1986;6:24-9.
-
(1986)
Hepatology
, vol.6
, pp. 24-29
-
-
Bassett, M.L.1
Halliday, J.W.2
Powell, L.W.3
-
8
-
-
0036727322
-
Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis
-
Beaton M, Guyader D, Deugnier Y, et al. Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology 2002;36:673-8.
-
(2002)
Hepatology
, vol.36
, pp. 673-678
-
-
Beaton, M.1
Guyader, D.2
Deugnier, Y.3
-
9
-
-
0031707469
-
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
-
Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998;115:929-36.
-
(1998)
Gastroenterology
, vol.115
, pp. 929-936
-
-
Guyader, D.1
Jacquelinet, C.2
Moirand, R.3
-
10
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-5.
-
(2000)
Nat Genet
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Cali, A.3
-
13
-
-
0032986271
-
High prevalence of the hemochromatosis-associated Cys282TyrHFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression
-
Distante S, Berg JP, Lande K, et al. High prevalence of the hemochromatosis-associated Cys282TyrHFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol 1999;34:529-34.
-
(1999)
Scand J Gastroenterol
, vol.34
, pp. 529-534
-
-
Distante, S.1
Berg, J.P.2
Lande, K.3
-
14
-
-
0032929277
-
High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa
-
de Villiers JN, Hillerman R, de Joug G, et al. High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa. S Afr Med J 1999;89:279-82.
-
(1999)
S Afr Med J
, vol.89
, pp. 279-282
-
-
De Villiers, J.N.1
Hillerman, R.2
De Joug, G.3
-
15
-
-
0032478524
-
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
-
Lebron JA, Bennett MJ, Vaughn DE, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998;93:111-23.
-
(1998)
Cell
, vol.93
, pp. 111-123
-
-
Lebron, J.A.1
Bennett, M.J.2
Vaughn, D.E.3
-
16
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-7.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1472-1477
-
-
Feder, J.N.1
Penny, D.M.2
Irrinki, A.3
-
17
-
-
1642394686
-
Intestinal absorption of iron in HFE-1 haemochromatosis: Local or systemic process?
-
Brissot P, Troadec MB, Loréal O. Intestinal absorption of iron in HFE-1 haemochromatosis: Local or systemic process? J Hepatol 2004;40:702-9.
-
(2004)
J Hepatol
, vol.40
, pp. 702-709
-
-
Brissot, P.1
Troadec, M.B.2
Loréal, O.3
-
19
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718-24.
-
(1999)
N Engl J Med
, vol.341
, pp. 718-724
-
-
Olynyk, J.K.1
Cullen, D.J.2
Aquilia, S.3
-
20
-
-
0030884018
-
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
-
Rhodes DA, Raha-Chowdhury R, Cox TM, et al. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Gene 1997;34:761-4.
-
(1997)
J Med Gene
, vol.34
, pp. 761-764
-
-
Rhodes, D.A.1
Raha-Chowdhury, R.2
Cox, T.M.3
-
21
-
-
0038542813
-
The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Review
-
Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Review. Blood 2003;101:3347-50.
-
(2003)
Blood
, vol.101
, pp. 3347-3350
-
-
Beutler, E.1
-
22
-
-
0037132786
-
Penetrance of 845G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
-
23
-
-
0036944167
-
Hereditary haemochromatosis: Only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload
-
McCune CA, Al-Jader LN, May A, et al. Hereditary haemochromatosis: Only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. Hum Genet 2002;111:538-43.
-
(2002)
Hum Genet
, vol.111
, pp. 538-543
-
-
McCune, C.A.1
Al-Jader, L.N.2
May, A.3
-
24
-
-
18544376989
-
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: A study of 9396 French people
-
Deugnier Y, Jouanolle AM, Chaperon J, et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: A study of 9396 French people. Br J Haematol 2002;118:1170-8.
-
(2002)
Br J Haematol
, vol.118
, pp. 1170-1178
-
-
Deugnier, Y.1
Jouanolle, A.M.2
Chaperon, J.3
-
25
-
-
20044386139
-
Penetrance of the HFE C282Y homozygote in North of France: Implications for public health
-
Rochette J, Cadet E, Thein SL, et al. Penetrance of the HFE C282Y homozygote in North of France: Implications for public health, (abstract). Blood 2002(Suppl 1):834.
-
(2002)
Blood
, Issue.SUPPL. 1
, pp. 834
-
-
Rochette, J.1
Cadet, E.2
Thein, S.L.3
-
26
-
-
2342498641
-
The clinical relevance of new insights in iron transport and metabolism
-
Brissot P, Troadec MB, Loréal O. The clinical relevance of new insights in iron transport and metabolism. Curr Hematol Rep 2004;3:107-15.
-
(2004)
Curr Hematol Rep
, vol.3
, pp. 107-115
-
-
Brissot, P.1
Troadec, M.B.2
Loréal, O.3
-
27
-
-
0034999045
-
Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
-
Aguilar-Martinez P, Bismuth M, Picot MC, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause? Gut 2001;48:836-42.
-
(2001)
Gut
, vol.48
, pp. 836-842
-
-
Aguilar-Martinez, P.1
Bismuth, M.2
Picot, M.C.3
-
28
-
-
0034062537
-
Genes that modify the hemochromatosis phenotype in mice
-
Levy JE, Montross LK, Andrews NC. Genes that modify the hemochromatosis phenotype in mice. J Clin Invest 2000;105:1209-16.
-
(2000)
J Clin Invest
, vol.105
, pp. 1209-1216
-
-
Levy, J.E.1
Montross, L.K.2
Andrews, N.C.3
-
29
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 2003;12:2241-7.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
-
30
-
-
6344243741
-
HAMP as a modifier gene that increase phenotypic expression of the HFE C282Y homozygous genotype
-
Dec 11 (Epub ahead of print)
-
Jacolot S, Le Gac G, Scotet V, et al. HAMP as a modifier gene that increase phenotypic expression of the HFE C282Y homozygous genotype. Blood 2003 Dec 11 (Epub ahead of print).
-
(2003)
Blood
-
-
Jacolot, S.1
Le Gac, G.2
Scotet, V.3
-
31
-
-
0029827481
-
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
-
Bulaj ZJ, Griffen LM, Jorde LB, et al. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996;335:1799-805.
-
(1996)
N Engl J Med
, vol.335
, pp. 1799-1805
-
-
Bulaj, Z.J.1
Griffen, L.M.2
Jorde, L.B.3
-
32
-
-
0031213527
-
Compound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease?
-
Aguilar Martinez P, Biron C, Blanc F, et al. Compound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease? Blood Cells Mol Dis 1997;23:269-76.
-
(1997)
Blood Cells Mol Dis
, vol.23
, pp. 269-276
-
-
Aguilar Martinez, P.1
Biron, C.2
Blanc, F.3
-
33
-
-
0033973825
-
Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women
-
Rossi E, Olynyk JK, Cullen DJ, et al. Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women. Clin Chem 2000;46: 162-6.
-
(2000)
Clin Chem
, vol.46
, pp. 162-166
-
-
Rossi, E.1
Olynyk, J.K.2
Cullen, D.J.3
-
34
-
-
0036177909
-
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
-
Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002;122:646-51.
-
(2002)
Gastroenterology
, vol.122
, pp. 646-651
-
-
Gochee, P.A.1
Powell, L.W.2
Cullen, D.J.3
-
35
-
-
9144248397
-
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis
-
Tomatsu S, Orii KO, Fleming RE, et al. Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Proc Natl Acad Sci U S A 2003;100:15788-93.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 15788-15793
-
-
Tomatsu, S.1
Orii, K.O.2
Fleming, R.E.3
-
36
-
-
0031016791
-
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
-
Roberts AG, Whatley SD, Morgan RR, et al. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997;349:321-3.
-
(1997)
Lancet
, vol.349
, pp. 321-323
-
-
Roberts, A.G.1
Whatley, S.D.2
Morgan, R.R.3
-
37
-
-
0035087466
-
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: A prospective study of 36 cases from southern France
-
Dereure O, Aguilar-Martinez P, Bessis D, et al. HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: A prospective study of 36 cases from southern France. Br J Dermatol 2001;144:533-9.
-
(2001)
Br J Dermatol
, vol.144
, pp. 533-539
-
-
Dereure, O.1
Aguilar-Martinez, P.2
Bessis, D.3
-
38
-
-
0033597780
-
Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
-
Kawabata H, Yang R, Hirama T, et al. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J Biol Chem 1999;23(274):20826-32.
-
(1999)
J Biol Chem
, vol.23
, Issue.274
, pp. 20826-20832
-
-
Kawabata, H.1
Yang, R.2
Hirama, T.3
-
39
-
-
0035046454
-
Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis
-
Aguilar-Martinez P, Esculie-Coste C, Bismuth M, et al. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis. Blood Cells Mol Dis 2001;27:290-3.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 290-293
-
-
Aguilar-Martinez, P.1
Esculie-Coste, C.2
Bismuth, M.3
-
40
-
-
0035046436
-
Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
-
Barton EH, West PA, Rivers CA, et al. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. Blood Cells Mol Dis 2001;27:279-84.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 279-284
-
-
Barton, E.H.1
West, P.A.2
Rivers, C.A.3
-
41
-
-
0035049344
-
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
-
Lee PL, Halloran C, West C, et al. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol Dis 2001;27:285-9.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 285-289
-
-
Lee, P.L.1
Halloran, C.2
West, C.3
-
42
-
-
0036242163
-
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
-
Girelli D, Bozzini C, Roetto A, et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002;122:1295-302.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
-
43
-
-
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
-
Biasiotto G, Belloli S, Ruggeri G, et al. 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 2003;49:1981-8.
-
(2003)
Clin Chem
, vol.49
, pp. 1981-1988
-
-
Biasiotto, G.1
Belloli, S.2
Ruggeri, G.3
-
44
-
-
0036683019
-
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
-
Mattman A, Huntsman D, Lockitch G, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation. Blood 2002;1(100):1075-7.
-
(2002)
Blood
, vol.1
, Issue.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
-
45
-
-
0043170776
-
AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
-
Hattori A, Wakusawa S, Hayashi H, et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 2003;26:154-6.
-
(2003)
Hepatol Res
, vol.26
, pp. 154-156
-
-
Hattori, A.1
Wakusawa, S.2
Hayashi, H.3
-
46
-
-
1942445099
-
Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload
-
Piperno A, Roetto A, Mariani R, et al. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. Haematologica 2004;89:359-60.
-
(2004)
Haematologica
, vol.89
, pp. 359-360
-
-
Piperno, A.1
Roetto, A.2
Mariani, R.3
-
47
-
-
0037962795
-
The orchestration of body iron intake: How and where do enterocytes receive their cues?
-
Frazer DM, Anderson GJ. The orchestration of body iron intake: How and where do enterocytes receive their cues? Blood Cells Mol Dis 2003;30:288-97.
-
(2003)
Blood Cells Mol Dis
, vol.30
, pp. 288-297
-
-
Frazer, D.M.1
Anderson, G.J.2
-
48
-
-
0021014865
-
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
-
Cazzola M, Ascari E, Barosi G, et al. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983;65:149-54.
-
(1983)
Hum Genet
, vol.65
, pp. 149-154
-
-
Cazzola, M.1
Ascari, E.2
Barosi, G.3
-
50
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004;36:77-82.
-
(2004)
Nat Genet
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
-
51
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-2.
-
(2003)
Nat Genet
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
-
52
-
-
0035896581
-
A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
-
Pigeon C, Ilyin G, Courselaud B, et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001;276:7811-9.
-
(2001)
J Biol Chem
, vol.276
, pp. 7811-7819
-
-
Pigeon, C.1
Ilyin, G.2
Courselaud, B.3
-
53
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
Nicolas G, Bennoun M, Devaux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 2001;98:8780-5.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
-
54
-
-
1642304500
-
Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation
-
Nov 20 (Epub ahead of print)
-
Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation. Blood 2003 Nov 20 (Epub ahead of print).
-
(2003)
Blood
-
-
Roetto, A.1
Daraio, F.2
Porporato, P.3
-
55
-
-
85056018454
-
Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′ UTR of the hepcidin gene
-
first edition paper, prepublished online June 15
-
Matthes T, Aguilar Martinez P, Bosman-Pizzi L, et al. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′ UTR of the hepcidin gene. Blood 2004; first edition paper, prepublished online June 15.
-
(2004)
Blood
-
-
Matthes, T.1
Aguilar Martinez, P.2
Bosman-Pizzi, L.3
-
56
-
-
2442715055
-
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
-
Delatycki M, Allen K, Gow P, et al. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Clin Genet 2004;65:378-383.
-
(2004)
Clin Genet
, vol.65
, pp. 378-383
-
-
Delatycki, M.1
Allen, K.2
Gow, P.3
-
57
-
-
2342656510
-
HAMP gene mutation C.208T > C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis
-
Majore S, Binni F, Pennese A, et al. HAMP gene mutation C.208T > C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis. Hum Mutat 2004;23:400.
-
(2004)
Hum Mutat
, vol.23
, pp. 400
-
-
Majore, S.1
Binni, F.2
Pennese, A.3
-
58
-
-
0037847496
-
Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis
-
Nicolas G, Viatte L, Lou DQ, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003;34:97-101.
-
(2003)
Nat Genet
, vol.34
, pp. 97-101
-
-
Nicolas, G.1
Viatte, L.2
Lou, D.Q.3
-
59
-
-
0036791486
-
The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
-
Nicolas G, Chauvet C, Viatte L, et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest 2002;110:1037-44.
-
(2002)
J Clin Invest
, vol.110
, pp. 1037-1044
-
-
Nicolas, G.1
Chauvet, C.2
Viatte, L.3
-
60
-
-
0038662619
-
Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
-
Nemeth E, Valore EV, Territo M, et al. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 2003;101:2461-3.
-
(2003)
Blood
, vol.101
, pp. 2461-2463
-
-
Nemeth, E.1
Valore, E.V.2
Territo, M.3
-
61
-
-
0037460697
-
Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis
-
Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis. Lancet 2003;361:669-73.
-
(2003)
Lancet
, vol.361
, pp. 669-673
-
-
Bridle, K.R.1
Frazer, D.M.2
Wilkins, S.J.3
-
62
-
-
0037007064
-
Severe iron deficiency anemia in transgenic mice expressing liver hepcidin
-
Nicolas G, Bennoun M, Porteu A, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A 2002;99:4596-601.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 4596-4601
-
-
Nicolas, G.1
Bennoun, M.2
Porteu, A.3
-
63
-
-
2542468736
-
The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
-
first edition paper, prepublished online Feb 24
-
Lanzara C, Roetto A, Daraio F, et al. The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004; first edition paper, prepublished online Feb 24.
-
(2004)
Blood
-
-
Lanzara, C.1
Roetto, A.2
Daraio, F.3
-
64
-
-
2942619988
-
Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
-
first edition paper, pre-published online Feb 24
-
Lee PL, Beutler E, Rao SV, et al. Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin. Blood 2004; first edition paper, pre-published online Feb 24.
-
(2004)
Blood
-
-
Lee, P.L.1
Beutler, E.2
Rao, S.V.3
-
65
-
-
0028881134
-
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
-
Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-6.
-
(1995)
Nat Genet
, vol.11
, pp. 444-446
-
-
Beaumont, C.1
Leneuve, P.2
Devaux, I.3
-
66
-
-
0028788201
-
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
-
Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86:4050-3.
-
(1995)
Blood
, vol.86
, pp. 4050-4053
-
-
Girelli, D.1
Corrocher, R.2
Bisceglia, L.3
-
67
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou OT, Vaessen N, Joosse M. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-4.
-
(2001)
Nat Genet
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
-
68
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-23.
-
(2001)
J Clin Invest
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
-
69
-
-
0022512141
-
Characterization, mapping, and expression of the human ceruloplasmin gene
-
Fang F, Naylor SL, Lum JB, et al. Characterization, mapping, and expression of the human ceruloplasmin gene. Proc Natl Acad Sci U S A 1986;83:3257-61.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 3257-3261
-
-
Fang, F.1
Naylor, S.L.2
Lum, J.B.3
-
70
-
-
0037860450
-
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
-
Hetet G, Devaux I, Soufir N, et al. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 2003;1(102):1904-10.
-
(2003)
Blood
, vol.1
, Issue.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
-
71
-
-
0034964604
-
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
-
Kato J, Fujikawa K, Kanda M, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001;69:191-7.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 191-197
-
-
Kato, J.1
Fujikawa, K.2
Kanda, M.3
-
72
-
-
0035437188
-
Ferritin knockout mice: A model of hyperferritinemia in the absence of iron overload
-
Ferreira C, Santambrogio P, Martin ME, et al. Ferritin knockout mice: A model of hyperferritinemia in the absence of iron overload. Blood 2001;98:525-32.
-
(2001)
Blood
, vol.98
, pp. 525-532
-
-
Ferreira, C.1
Santambrogio, P.2
Martin, M.E.3
-
74
-
-
0029819042
-
A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome
-
Aguilar-Martinez P, Biron C, Masmejean C, et al. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. Blood 1996;88:1895.
-
(1996)
Blood
, vol.88
, pp. 1895
-
-
Aguilar-Martinez, P.1
Biron, C.2
Masmejean, C.3
-
75
-
-
0345419053
-
Scanning mutations of the 5′UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: Identification of new mutations
-
Cremonesi L, Paroni R, Foglieni B, et al. Scanning mutations of the 5′UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: Identification of new mutations. Br J Haematol 2003;121:173-9.
-
(2003)
Br J Haematol
, vol.121
, pp. 173-179
-
-
Cremonesi, L.1
Paroni, R.2
Foglieni, B.3
-
76
-
-
0034677467
-
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
-
Donovan A, Brownlie A, Zhou Y, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 2000;403:776-81.
-
(2000)
Nature
, vol.403
, pp. 776-781
-
-
Donovan, A.1
Brownlie, A.2
Zhou, Y.3
-
77
-
-
0742272103
-
The ferroportin disease
-
Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004;32:131-8.
-
(2004)
Blood Cells Mol Dis
, vol.32
, pp. 131-138
-
-
Pietrangelo, A.1
-
78
-
-
0037100383
-
A valine deletion of ferroportin 1: A common mutation in hemochromatosis type 4
-
Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: A common mutation in hemochromatosis type 4. Blood 2002;100:733-4.
-
(2002)
Blood
, vol.100
, pp. 733-734
-
-
Roetto, A.1
Merryweather-Clarke, A.T.2
Daraio, F.3
-
79
-
-
0037100382
-
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
-
Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-7.
-
(2002)
Blood
, vol.100
, pp. 695-697
-
-
Devalia, V.1
Carter, K.2
Walker, A.P.3
-
80
-
-
18744400781
-
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
-
Cazzola M, Cremonesi L, Papaioannou M, et al. 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 2002;119:539-46.
-
(2002)
Br J Haematol
, vol.119
, pp. 539-546
-
-
Cazzola, M.1
Cremonesi, L.2
Papaioannou, M.3
-
81
-
-
0242636419
-
Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
-
Barton JC, Acton RT, Rivers CA, et al. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis 2003;31:310-9.
-
(2003)
Blood Cells Mol Dis
, vol.31
, pp. 310-319
-
-
Barton, J.C.1
Acton, R.T.2
Rivers, C.A.3
-
82
-
-
0242724153
-
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
-
Beutler E, Barton JC, Felitti VJ, et al. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis 2003;31:305-9.
-
(2003)
Blood Cells Mol Dis
, vol.31
, pp. 305-309
-
-
Beutler, E.1
Barton, J.C.2
Felitti, V.J.3
-
83
-
-
10744232713
-
Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene
-
Gordeuk VR, Caleffi A, Corradini E, et al. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol Dis 2003;31:299-304.
-
(2003)
Blood Cells Mol Dis
, vol.31
, pp. 299-304
-
-
Gordeuk, V.R.1
Caleffi, A.2
Corradini, E.3
-
84
-
-
0036798949
-
African iron overload
-
Gordeuk VR. African iron overload. Semin Hematol 2002;39:263-9.
-
(2002)
Semin Hematol
, vol.39
, pp. 263-269
-
-
Gordeuk, V.R.1
-
85
-
-
0028903259
-
Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
-
Harris ZL, Takahashi Y, Miyajima H, et al. Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism. Proc Natl Acas Sci USA 1995;92:2539-43.
-
(1995)
Proc Natl Acas Sci USA
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
-
86
-
-
0036623360
-
Aceruloplasminemia: New clinical, pathophysiological and therapeutic insights
-
Loréal O, Turlin B, Pigeon C, et al. Aceruloplasminemia: New clinical, pathophysiological and therapeutic insights. J Hepatol 2002;36:851-56.
-
(2002)
J Hepatol
, vol.36
, pp. 851-856
-
-
Loréal, O.1
Turlin, B.2
Pigeon, C.3
-
87
-
-
2342434172
-
Iron chelation therapy in aceruloplasminemia: Study of a patient with a novel missense mutation
-
Mariani R, Arosio C, Pelucchi S, et al. Iron chelation therapy in aceruloplasminemia: Study of a patient with a novel missense mutation. Gut 2004;53:756-8.
-
(2004)
Gut
, vol.53
, pp. 756-758
-
-
Mariani, R.1
Arosio, C.2
Pelucchi, S.3
|