-
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: 1107-1119
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
-
2
-
-
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
-
3
-
-
0032080222
-
The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene cluster
-
Albig W, Drabent B, Burmester N et al. The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene cluster. J Cell Biochem 1998; 69: 117-126
-
(1998)
J Cell Biochem
, vol.69
, pp. 117-126
-
-
Albig, W.1
Drabent, B.2
Burmester, N.3
-
4
-
-
0037164344
-
Genetics of haemochromatosis
-
Bomford A. Genetics of haemochromatosis. Lancet 2002; 360: 1673-1681
-
(2002)
Lancet
, vol.360
, pp. 1673-1681
-
-
Bomford, A.1
-
5
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
-
Feder JN, Tsuchihashi Z, Irrinki A et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 1997; 272: 14 025-14 028
-
(1997)
J Biol Chem
, vol.272
, pp. 14025-14028
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
-
7
-
-
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; 100: 1075-1077
-
(2002)
Blood
, vol.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
-
8
-
-
0037100517
-
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
-
Wallace DF, Pedersen P, Dixon JL et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 2002; 100: 692-694
-
(2002)
Blood
, vol.100
, pp. 692-694
-
-
Wallace, D.F.1
Pedersen, P.2
Dixon, J.L.3
-
9
-
-
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: 21-22
-
(2003)
Nat Genet
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
-
11
-
-
0035064272
-
Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy
-
Cassanelli S, Pignatti E, Montosi G et al. Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy. J Hepatol 2001; 34: 523-528
-
(2001)
J Hepatol
, vol.34
, pp. 523-528
-
-
Cassanelli, S.1
Pignatti, E.2
Montosi, G.3
-
12
-
-
0035054259
-
Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary
-
Andrikovics H, Kalmar L, Bors A et al. Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary. Blood Cells Mol Dis 2001; 27: 334-341
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 334-341
-
-
Andrikovics, H.1
Kalmar, L.2
Bors, A.3
-
13
-
-
0031890144
-
HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis
-
Gottschalk R, Seidl C, Loffler T et al. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. Tissue Antigens 1998; 51: 270-275
-
(1998)
Tissue Antigens
, vol.51
, pp. 270-275
-
-
Gottschalk, R.1
Seidl, C.2
Loffler, T.3
-
14
-
-
0034816410
-
Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique
-
Hellerbrand C, Bosserhoff AK, Seegers S et al. Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique. Scand J Gastroenterol 2001; 36: 1211-1216
-
(2001)
Scand J Gastroenterol
, vol.36
, pp. 1211-1216
-
-
Hellerbrand, C.1
Bosserhoff, A.K.2
Seegers, S.3
-
15
-
-
0031729616
-
Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany
-
Nielsen P, Carpinteiro S, Fischer R et al. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol 1998; 103: 842-845
-
(1998)
Br J Haematol
, vol.103
, pp. 842-845
-
-
Nielsen, P.1
Carpinteiro, S.2
Fischer, R.3
-
16
-
-
0031839335
-
The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
-
Merryweather Clarke AT, Worwood M, Parkinson L et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br J Haematol 1998; 101: 369-373
-
(1998)
Br J Haematol
, vol.101
, pp. 369-373
-
-
Merryweather Clarke, A.T.1
Worwood, M.2
Parkinson, L.3
-
17
-
-
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: 474-484
-
(2001)
Br J Haematol
, vol.114
, pp. 474-484
-
-
Jackson, H.A.1
Carter, K.2
Darke, C.3
-
18
-
-
0032986271
-
High prevalence of the hemochromatosis-associated Cys282Tyr HFE 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 Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol 1999; 34: 529-534
-
(1999)
Scand J Gastroenterol
, vol.34
, pp. 529-534
-
-
Distante, S.1
Berg, J.P.2
Lande, K.3
-
21
-
-
0033521013
-
Nachweis des HFE-polymorphismus bei Deutschen patienten mit hereditärer hamochromatose
-
Erhardt A, Niederau C, Osman Yet al. Nachweis des HFE-Polymorphismus bei deutschen Patienten mit hereditärer Hamochromatose. [Demonstration of HFE polymorphism in German patients with hereditary hemochromatosis]. Dtsch Med Wochenschr 1999; 124: 1448-1452
-
(1999)
Dtsch Med Wochenschr
, vol.124
, pp. 1448-1452
-
-
Erhardt, A.1
Niederau, C.2
Osman, Y.3
-
22
-
-
0033664075
-
Biochemical expression of heterozygous hereditary hemochromatosis
-
de Valk B, Witlox RS, van der Schouw YT et al. Biochemical expression of heterozygous hereditary hemochromatosis. Eur J Intern Med 2000; 11: 317-321
-
(2000)
Eur J Intern Med
, vol.11
, pp. 317-321
-
-
De Valk, B.1
Witlox, R.S.2
Van Der Schouw, Y.T.3
-
23
-
-
0035133172
-
Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population
-
Rossi E, Bulsara MK, Olynyk JK et al. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem 2001; 47: 202-208
-
(2001)
Clin Chem
, vol.47
, pp. 202-208
-
-
Rossi, E.1
Bulsara, M.K.2
Olynyk, J.K.3
-
24
-
-
0032496881
-
Hereditary hemochromatosis: Gene discovery and its implications for population-based screening
-
Burke W, Thomson E, Khoury MJ et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA, 1998; 280: 172-178
-
(1998)
JAMA
, vol.280
, pp. 172-178
-
-
Burke, W.1
Thomson, E.2
Khoury, M.J.3
-
25
-
-
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: 3347-3350
-
(2003)
Blood
, vol.101
, pp. 3347-3350
-
-
Beutler, E.1
-
26
-
-
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: 211-218
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
-
27
-
-
0033578246
-
Haemochromatosis gene C282Y homozygotes in an elderly male population
-
Willis G, Wimperis JZ, Smith KC et al. Haemochromatosis gene C282Y homozygotes in an elderly male population. Lancet 1999; 354: 221-222
-
(1999)
Lancet
, vol.354
, pp. 221-222
-
-
Willis, G.1
Wimperis, J.Z.2
Smith, K.C.3
-
28
-
-
0037621914
-
Hemochromatosis gene modifies course of hepatitis C viral infection
-
Pietrangelo A. Hemochromatosis gene modifies course of hepatitis C viral infection. Gastroenterology 2003; 124: 1509-1523
-
(2003)
Gastroenterology
, vol.124
, pp. 1509-1523
-
-
Pietrangelo, A.1
-
29
-
-
0037336495
-
HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis
-
Erhardt A, Maschner-Olberg A, Mellenthin C et al. HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis. J Hepatol 2003; 38: 335-342
-
(2003)
J Hepatol
, vol.38
, pp. 335-342
-
-
Erhardt, A.1
Maschner-Olberg, A.2
Mellenthin, C.3
-
30
-
-
0033198317
-
Non-alcoholic steatohepatitis and iron: Increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis
-
Bonkovsky HL, Jawaid Q, Tortorelli K et al. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol 1999; 31: 421-429
-
(1999)
J Hepatol
, vol.31
, pp. 421-429
-
-
Bonkovsky, H.L.1
Jawaid, Q.2
Tortorelli, K.3
-
31
-
-
0036291809
-
HFE mutations, hepatic iron, and fibrosis: Ethnic-specific association of NASH with C282Y but not with fibrotic severity
-
Chitturi S, Weltman M, Farrell GC et al. HFE mutations, hepatic iron, and fibrosis: ethnic-specific association of NASH with C282Y but not with fibrotic severity. Hepatology 2002; 36: 142-149
-
(2002)
Hepatology
, vol.36
, pp. 142-149
-
-
Chitturi, S.1
Weltman, M.2
Farrell, G.C.3
-
32
-
-
0036164415
-
Porphyria cutanea tarda: Multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency
-
Egger NG, Goeger DE, Payne DA et al. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci 2002; 47: 419-426
-
(2002)
Dig Dis Sci
, vol.47
, pp. 419-426
-
-
Egger, N.G.1
Goeger, D.E.2
Payne, D.A.3
-
33
-
-
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: 533-539
-
(2001)
Br J Dermatol
, vol.144
, pp. 533-539
-
-
Dereure, O.1
Aguilar Martinez, P.2
Bessis, D.3
-
34
-
-
0034923034
-
C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients
-
Tannapfel A, Stolzel U, Kostler E et al. C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Arch 2001; 439: 1-5
-
(2001)
Virchows Arch
, vol.439
, pp. 1-5
-
-
Tannapfel, A.1
Stolzel, U.2
Kostler, E.3
-
35
-
-
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: 646-651
-
(2002)
Gastroenterology
, vol.122
, pp. 646-651
-
-
Gochee, P.A.1
Powell, L.W.2
Cullen, D.J.3
-
36
-
-
0032955556
-
Molecular medicine and hemochromatosis: At the crossroads
-
Bacon BR, Powell LW, Adams PC et al. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 1999; 116: 193-207
-
(1999)
Gastroenterology
, vol.116
, pp. 193-207
-
-
Bacon, B.R.1
Powell, L.W.2
Adams, P.C.3
-
37
-
-
0033865948
-
Screening for hemochromatosis in routine medical care: An evaluation of mean corpuscular volume and mean corpuscular hemoglobin
-
Barton JC, Bertoli LF, Rothenberg BE. Screening for hemochromatosis in routine medical care: an evaluation of mean corpuscular volume and mean corpuscular hemoglobin. Genet Test 2000; 4: 103-110
-
(2000)
Genet Test
, vol.4
, pp. 103-110
-
-
Barton, J.C.1
Bertoli, L.F.2
Rothenberg, B.E.3
-
38
-
-
0031700041
-
Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: A protective role against iron deficiency?
-
Datz C, Haas T, Rinner H et al. Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency? Clin Chem 1998; 44: 2429-2432
-
(1998)
Clin Chem
, vol.44
, pp. 2429-2432
-
-
Datz, C.1
Haas, T.2
Rinner, H.3
-
39
-
-
0034609577
-
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
-
Beutler E, Felitti V, Gelbart T et al. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000; 133: 329-337
-
(2000)
Ann Intern Med
, vol.133
, pp. 329-337
-
-
Beutler, E.1
Felitti, V.2
Gelbart, T.3
-
40
-
-
0034744630
-
The hHFE gene of browsing and grazing rhinoceroses: A possible site of adaptation to a low-iron diet
-
Beutler E, West C, Speir JA et al. The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron diet. Blood Cells Mol Dis 2001; 27: 342-350
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 342-350
-
-
Beutler, E.1
West, C.2
Speir, J.A.3
|