-
1
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Purschel A, et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996;110:1107-19.
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
-
2
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
The UK Haemochromatosis Consortium, Worwood M. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997;41:841-4.
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
Worwood, M.1
-
3
-
-
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
-
4
-
-
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
-
5
-
-
10744225120
-
Diqenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
Merryweather-Clarke AT, Cadet E, Bomford A, et al. Diqenic 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
-
6
-
-
0141607526
-
Hemochromatosis due to mutations in transferrin receptor 2
-
Roetto A, Daraio F, Alberti F, et al. Hemochromatosis due to mutations in transferrin receptor 2. Blood Cells Mol Dis 2002;29:465-70.
-
(2002)
Blood Cells Mol Dis
, vol.29
, pp. 465-470
-
-
Roetto, A.1
Daraio, F.2
Alberti, F.3
-
7
-
-
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
-
8
-
-
0037100382
-
Autosomol 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. Autosomol 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
-
9
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-14.
-
(2001)
Nat Genet
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
-
10
-
-
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
-
11
-
-
4544255777
-
The origin and spread of the HFE-C282Y haemochromatosis mutation
-
Distante S, Robson KJH, Graham-Campbell J, et al. The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet 2004;115:269-79.
-
(2004)
Hum Genet
, vol.115
, pp. 269-279
-
-
Distante, S.1
Robson, K.J.H.2
Graham-Campbell, J.3
-
13
-
-
0034649789
-
Screening for hereditary haemochromatosis should be implemented now
-
Allen K, Williamson R. Screening for hereditary haemochromatosis should be implemented now. BMJ 2000;320:183-4.
-
(2000)
BMJ
, vol.320
, pp. 183-184
-
-
Allen, K.1
Williamson, R.2
-
14
-
-
17944369464
-
Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons
-
Asberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-15.
-
(2001)
Scand J Gastroenterol
, vol.36
, pp. 1108-1115
-
-
Asberg, A.1
Hveem, K.2
Thorstensen, K.3
-
15
-
-
0037132786
-
Penetrance of 845G → (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G → (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-18.
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
-
16
-
-
0036944167
-
Hereditary haemochromatosis: Only 1% of adult HFE C282Y 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 HFE C282Y 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
-
17
-
-
0038542813
-
The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
-
Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 2003;101:3347-50.
-
(2003)
Blood
, vol.101
, pp. 3347-3350
-
-
Beutler, E.1
-
18
-
-
0038542811
-
Clinical consequences of iron overload in hemochromatosis homozygotes
-
Ajioka RS, Kushner JP. Clinical consequences of iron overload in hemochromatosis homozygotes. Blood 2003;101:3351-4.
-
(2003)
Blood
, vol.101
, pp. 3351-3354
-
-
Ajioka, R.S.1
Kushner, J.P.2
-
19
-
-
0242573928
-
Clinical consequences of iron overload in hemochromatosis homozygotes-Rebuttal to Ajioka and Kushner
-
Beutler E. Clinical consequences of iron overload in hemochromatosis homozygotes-Rebuttal to Ajioka and Kushner. Blood 2003;101:3354-7.
-
(2003)
Blood
, vol.101
, pp. 3354-3357
-
-
Beutler, E.1
-
20
-
-
0038542811
-
Clinical consequences of iron overload in hemochromatosis homozygotes-Rebuttal to Beutler
-
Ajioka RS, Kushner JP. Clinical consequences of iron overload in hemochromatosis homozygotes-Rebuttal to Beutler. Blood 2003;101:3358.
-
(2003)
Blood
, vol.101
, pp. 3358
-
-
Ajioka, R.S.1
Kushner, J.P.2
-
21
-
-
0033927849
-
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
-
Whitfield JB, Cullen LM, Jazwinska EC, et al. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet 2000;66:1246-58.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1246-1258
-
-
Whitfield, J.B.1
Cullen, L.M.2
Jazwinska, E.C.3
-
22
-
-
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
-
23
-
-
0036838570
-
Duodenal mRNA expression of iron related genes in response to iron loading and iron deficiency in four strains of mice
-
Dupic F, Fruchon S, Bensaid M, et al. Duodenal mRNA expression of iron related genes in response to iron loading and iron deficiency in four strains of mice. Gut 2002;51:648-53.
-
(2002)
Gut
, vol.51
, pp. 648-653
-
-
Dupic, F.1
Fruchon, S.2
Bensaid, M.3
-
24
-
-
0030341599
-
Population screening for hemochromatosis: Expectations based on a study of relatives of symptomatic patients
-
Bradley LA, Haddow JE, Palomaki GE. Population screening for hemochromatosis: expectations based on a study of relatives of symptomatic patients. J Med Screen 1996;3:171-7.
-
(1996)
J Med Screen
, vol.3
, pp. 171-177
-
-
Bradley, L.A.1
Haddow, J.E.2
Palomaki, G.E.3
-
25
-
-
0034707120
-
Disease-related conditions in relatives of patients with hemochromatosis
-
Bulaj ZJ, Ajioka RS, Phillips JD, et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000;343:1529-35.
-
(2000)
N Engl J Med
, vol.343
, pp. 1529-1535
-
-
Bulaj, Z.J.1
Ajioka, R.S.2
Phillips, J.D.3
-
26
-
-
0036163634
-
Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis
-
Fletcher LM, Dixon JL, Purdie DM, et al. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 2002;122:281-9.
-
(2002)
Gastroenterology
, vol.122
, pp. 281-289
-
-
Fletcher, L.M.1
Dixon, J.L.2
Purdie, D.M.3
-
27
-
-
0036258015
-
Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection
-
Diwakaran HH, Befeler AS, Britton RS, et al. Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection. J Hepatol 2002;36:687-91.
-
(2002)
J Hepatol
, vol.36
, pp. 687-691
-
-
Diwakaran, H.H.1
Befeler, A.S.2
Britton, R.S.3
-
28
-
-
0029078117
-
Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene
-
Crawford DHG, Powell LW, Leggett BA, et al. Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. Am J Hum Genet 1995;57:362-7.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 362-367
-
-
Crawford, D.H.G.1
Powell, L.W.2
Leggett, B.A.3
-
29
-
-
15844397210
-
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
-
Piperno A, Arosio C, Fargion S, et al. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 1996;24:43-6.
-
(1996)
Hepatology
, vol.24
, pp. 43-46
-
-
Piperno, A.1
Arosio, C.2
Fargion, S.3
-
30
-
-
0030394593
-
Hemochromatosis: Association of severity of iron overload with genetic markers
-
Barton JC, Harmon L, Rivers C, et al. Hemochromatosis: Association of severity of iron overload with genetic markers. Blood Cells Mol Dis 1996;22:195-204.
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 195-204
-
-
Barton, J.C.1
Harmon, L.2
Rivers, C.3
-
31
-
-
0034883430
-
HFE mutations, iron deficiency and overload in 10 500 blood donors
-
Jackson HA, Carter K, Darke C, et al. HFE mutations, iron deficiency and overload in 10 500 blood donors. Br J Haematol 2001;114:474-84.
-
(2001)
Br J Haematol
, vol.114
, pp. 474-484
-
-
Jackson, H.A.1
Carter, K.2
Darke, C.3
-
32
-
-
0344687289
-
Screening for hereditary haemochromatosis within families and beyond
-
McCune CA, Ravine D, Worwood M, et al. Screening for hereditary haemochromatosis within families and beyond. Lancet 2003;362:1897-8.
-
(2003)
Lancet
, vol.362
, pp. 1897-1898
-
-
McCune, C.A.1
Ravine, D.2
Worwood, M.3
-
33
-
-
0034659479
-
Using generic measures of functional health and well-being to increase understanding of disease burden
-
Ware JE. Using generic measures of functional health and well-being to increase understanding of disease burden. Spine 2000;25:1467.
-
(2000)
Spine
, vol.25
, pp. 1467
-
-
Ware, J.E.1
-
34
-
-
12444310789
-
Iron deficiency anaemia and iron overload
-
Lewis SM, Bain BJ, Bates I, eds. London: Churchill Livingstone
-
Worwood M. Iron deficiency anaemia and iron overload. In: Lewis SM, Bain BJ, Bates I, eds. Dacie and Lewis practical haematology. London: Churchill Livingstone, 2001:115-28.
-
(2001)
Dacie and Lewis Practical Haematology
, pp. 115-128
-
-
Worwood, M.1
-
35
-
-
0030798387
-
Rapid genetic screening for haemochromatosis using heteroduplex technology
-
Jackson HA, Bowen DJ, Worwood M. Rapid genetic screening for haemochromatosis using heteroduplex technology. Br J Haematol 1997;98:856-9.
-
(1997)
Br J Haematol
, vol.98
, pp. 856-859
-
-
Jackson, H.A.1
Bowen, D.J.2
Worwood, M.3
-
36
-
-
0000865751
-
A single tube heteroduplex PCR for the common HFE genotypes
-
Worwood M, Jackson HA, Feeney GP, et al. A single tube heteroduplex PCR for the common HFE genotypes. Blood 1999;94:405a.
-
(1999)
Blood
, vol.94
-
-
Worwood, M.1
Jackson, H.A.2
Feeney, G.P.3
-
37
-
-
0028805511
-
New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
-
Raha-Chowdhury R, Bowen DJ, Stone C, et al. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 1995;4:1869-74.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1869-1874
-
-
Raha-Chowdhury, R.1
Bowen, D.J.2
Stone, C.3
-
38
-
-
10444242746
-
-
British Committee for Standards in Haematology. Oxford, Darwin Medical Communications Ltd.
-
Dooley J, Worwood M. Guidelines on diagnosis and therapy: Genetic haemochromatosis, British Committee for Standards in Haematology. Oxford, Darwin Medical Communications Ltd, 2000 http://www.bcshguidelines.com/pdf/chpt9B.pdf.
-
(2000)
Guidelines on Diagnosis and Therapy: Genetic Haemochromatosis
-
-
Dooley, J.1
Worwood, M.2
-
39
-
-
0030305457
-
A language for data analysis and graphics
-
Ihaka R, Gentleman R. A language for data analysis and graphics. J Comput Graph Stat 1996;5:299-314.
-
(1996)
J Comput Graph Stat
, vol.5
, pp. 299-314
-
-
Ihaka, R.1
Gentleman, R.2
-
40
-
-
0035728424
-
A primer for predicting risk of disease in HFE-linked hemochromatosis
-
Adams PC, Walker AP, Acton RT. A primer for predicting risk of disease in HFE-linked hemochromatosis. Genet Test 2001;5:311-16.
-
(2001)
Genet Test
, vol.5
, pp. 311-316
-
-
Adams, P.C.1
Walker, A.P.2
Acton, R.T.3
-
41
-
-
0034919706
-
Hemochromatosis mutations C282Y and H63D in 'cis' phase
-
Best LG, Harris PE, Spriggs EL. Hemochromatosis mutations C282Y and H63D in 'cis' phase. Clin Genet 2001;60:68-72.
-
(2001)
Clin Genet
, vol.60
, pp. 68-72
-
-
Best, L.G.1
Harris, P.E.2
Spriggs, E.L.3
-
42
-
-
0034510324
-
Detection of an unusual combination of mutations in the HFE gene for hemochromatosis
-
Thorstensen K, Asberg A, Kvitland M, et al. Detection of an unusual combination of mutations in the HFE gene for hemochromatosis. Genet Test 2000;4:371-6.
-
(2000)
Genet Test
, vol.4
, pp. 371-376
-
-
Thorstensen, K.1
Asberg, A.2
Kvitland, M.3
-
43
-
-
0029151906
-
Iron stores and iron absorption: Effects of repeated blood donations
-
Garry PJ, Koehler KM, Simon TL. Iron stores and iron absorption: Effects of repeated blood donations. Am J Clin Nutr 1995;62:611-20.
-
(1995)
Am J Clin Nutr
, vol.62
, pp. 611-620
-
-
Garry, P.J.1
Koehler, K.M.2
Simon, T.L.3
-
44
-
-
0033564146
-
HFE genotype in patients with hemochromatosis and other liver diseases
-
Bacon BR, Olynyk JK, Brunt EM, et al. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999;130:953-62.
-
(1999)
Ann Intern Med
, vol.130
, pp. 953-962
-
-
Bacon, B.R.1
Olynyk, J.K.2
Brunt, E.M.3
-
45
-
-
0031969395
-
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
-
Crawfotd DHG, Jazwinska EC, Cullen LM, et al. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998;114:1003-8.
-
(1998)
Gastroenterology
, vol.114
, pp. 1003-1008
-
-
Crawfotd, D.H.G.1
Jazwinska, E.C.2
Cullen, L.M.3
-
46
-
-
0035712326
-
HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls
-
de Juan MD, Reta A, Castiella A, et al. HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Eur J Hum Genet 2001;9:961-4.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 961-964
-
-
De Juan, M.D.1
Reta, A.2
Castiella, A.3
-
47
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-78.
-
(2005)
N Engl J Med
, vol.352
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
48
-
-
0036293879
-
Underdiagnosis of hereditary haemochromatosis: Lack of presentation or penetration?
-
Ryan E, Byrnes V, Coughlan B, et al. Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration? Gut 2002;51:108-12.
-
(2002)
Gut
, vol.51
, pp. 108-112
-
-
Ryan, E.1
Byrnes, V.2
Coughlan, B.3
-
49
-
-
0030871892
-
Haemochromatosis gene mutation in hepatocellular cancer
-
Willis G, Wimperis JZ, Lonsdale R, et al. Haemochromatosis gene mutation in hepatocellular cancer. Lancet 1997;350:565-6.
-
(1997)
Lancet
, vol.350
, pp. 565-566
-
-
Willis, G.1
Wimperis, J.Z.2
Lonsdale, R.3
-
50
-
-
0034105259
-
Incidence of liver disease in people with HFE mutations
-
Willis G, Wimperis JZ, Lonsdale R, et al. Incidence of liver disease in people with HFE mutations. Gut 2000;46:401-4.
-
(2000)
Gut
, vol.46
, pp. 401-404
-
-
Willis, G.1
Wimperis, J.Z.2
Lonsdale, R.3
-
51
-
-
0036430141
-
HFE mutations a risk factors for disease
-
Worwood M. HFE mutations a risk factors for disease. Best Pract Res Clin Haematol 2002;15:295-314.
-
(2002)
Best Pract Res Clin Haematol
, vol.15
, pp. 295-314
-
-
Worwood, M.1
-
52
-
-
33645119548
-
Hereditary haemochromatosis: Pilot study of case-finding approach to early diagnosis in primary care
-
Emery J, Rose P, Harcourt J, et al. Hereditary haemochromatosis: pilot study of case-finding approach to early diagnosis in primary care. Am J Hum Genet 2001;69:1455.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1455
-
-
Emery, J.1
Rose, P.2
Harcourt, J.3
-
53
-
-
0027319493
-
Screening for hemochromatosis
-
Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med 1993;328:1616-20.
-
(1993)
N Engl J Med
, vol.328
, pp. 1616-1620
-
-
Edwards, C.Q.1
Kushner, J.P.2
-
54
-
-
0001089987
-
EASL International Consensus Conference on Haemochromatosis. Co-sponsored by the World Health Organization. Supported by the National Institutes of Health and Centers for Disease Control and Prevention (USA)
-
EASL International Consensus Conference on Haemochromatosis. Co-sponsored by the World Health Organization. Supported by the National Institutes of Health and Centers for Disease Control and Prevention (USA). J Hepatol 2000;33:485-504.
-
(2000)
J Hepatol
, vol.33
, pp. 485-504
-
-
-
55
-
-
0033795335
-
Phenotypic expression of the HFE gene mutation (C282Y) among the hospitalised population
-
Distante S. Phenotypic expression of the HFE gene mutation (C282Y) among the hospitalised population. Gut 2000;47:575-9.
-
(2000)
Gut
, vol.47
, pp. 575-579
-
-
Distante, S.1
-
56
-
-
2542560427
-
Medical progress-hereditary hemochromatosis-A new look at an old disease
-
Pietrangelo A. Medical progress-hereditary hemochromatosis-A new look at an old disease. N Engl J Med 2004;350:2383-97.
-
(2004)
N Engl J Med
, vol.350
, pp. 2383-2397
-
-
Pietrangelo, A.1
-
57
-
-
11144254037
-
HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: Frequency disparity in men and women and lack of association with severity of iron overload
-
Barton JC, Wiener HW, Acton RT, et al. HLA haplotype A*03- B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis 2005;34:38-47.
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(2005)
Blood Cells Mol Dis
, vol.34
, pp. 38-47
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Barton, J.C.1
Wiener, H.W.2
Acton, R.T.3
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