-
1
-
-
0023901798
-
Prevalence of hemochromatosis among 11 065 presumably healthy blood donors
-
Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11 065 presumably healthy blood donors. N Engl J Med 1988; 318: 1355-62.
-
(1988)
N Engl J Med
, vol.318
, pp. 1355-1362
-
-
Edwards, C.Q.1
Griffen, L.M.2
Goldgar, D.3
Drummond, C.4
Skolnick, M.H.5
Kushner, J.P.6
-
2
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. 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
Stremmel, W.4
Haussinger, D.5
Strohmeyer, G.6
-
3
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Jr., Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK, 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
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo R., Jr.8
Ellis, M.C.9
Fullan, A.10
Hinton, L.M.11
Jones, N.L.12
Kimmel, B.E.13
Kronmal, G.S.14
Lauer, P.15
Lee, V.K.16
Loeb, D.B.17
Mapa, F.A.18
McClelland, E.19
Meyer, N.C.20
Mintier, G.A.21
Moeller, N.22
Moore, T.23
Morikang, E.24
Wolff, R.K.25
more..
-
4
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC. 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
Lee, V.K.4
Lebron, J.A.5
Watson, N.6
Tsuchihashi, Z.7
Sigal, E.8
Bjorkman, P.J.9
Schatzman, R.C.10
-
5
-
-
0033150066
-
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
-
Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT. 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 1999; 25: 147-55.
-
(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
-
6
-
-
0033561342
-
HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
-
Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 93: 2502-5.
-
(1999)
Blood
, vol.93
, pp. 2502-2505
-
-
Mura, C.1
Raguenes, O.2
Ferec, C.3
-
7
-
-
0033368474
-
HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors
-
Arya N, Chakrabrati S, Hegele RA, Adams PC. HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors. Blood Cells Mol Dis 1999; 25: 354-7.
-
(1999)
Blood Cells Mol Dis
, vol.25
, pp. 354-357
-
-
Arya, N.1
Chakrabrati, S.2
Hegele, R.A.3
Adams, P.C.4
-
9
-
-
0033517341
-
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
-
Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, Sardini C, Vasta F, Gasparini P. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999; 341: 725-32.
-
(1999)
N Engl J Med
, vol.341
, pp. 725-732
-
-
Pietrangelo, A.1
Montosi, G.2
Totaro, A.3
Garuti, C.4
Conte, D.5
Cassanelli, S.6
Fraquelli, M.7
Sardini, C.8
Vasta, F.9
Gasparini, P.10
-
10
-
-
16944363480
-
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
-
Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camaschella C. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60: 828-32.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 828-832
-
-
Carella, M.1
D'Ambrosio, L.2
Totaro, A.3
Grifa, A.4
Valentino, M.A.5
Piperno, A.6
Girelli, D.7
Roetto, A.8
Franco, B.9
Gasparini, P.10
Camaschella, C.11
-
11
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, Cali A, De Gobbi M, Gasparini P, Camaschella C. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001; 97: 2555-60.
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
Piga, A.4
Longo, F.5
Garozzo, G.6
Cali, A.7
De Gobbi, M.8
Gasparini, P.9
Camaschella, C.10
-
12
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P. 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
De Gobbi, M.4
Garozzo, G.5
Carella, M.6
Majorano, N.7
Totaro, A.8
Gasparini, P.9
-
13
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P. 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
Berghuis, B.4
Van Dongen, J.W.5
Breuning, M.H.6
Snijders, P.J.7
Rutten, W.P.8
Sandkuijl, L.A.9
Oostra, B.A.10
Van Duijn, C.M.11
Heutink, P.12
-
14
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, Gasparini P, Andrews NC, Pietrangelo A. 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
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
Trenor, C.C.7
Gasparini, P.8
Andrews, N.C.9
Pietrangelo, A.10
-
15
-
-
0033912834
-
Population screening in hereditary hemochromatosis
-
Motulsky AG, Beutler E. Population screening in hereditary hemochromatosis. Annu Rev Public Health 2000; 21: 65-79.
-
(2000)
Annu Rev Public Health
, vol.21
, pp. 65-79
-
-
Motulsky, A.G.1
Beutler, E.2
-
16
-
-
0030221927
-
Mutation analysis in hereditary hemochromatosis
-
Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Elshof AE, Gerhard GS, Chorney M. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22: 187-94.
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 187-194
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
Lee, P.4
Adams, M.5
Blackstone, R.6
Pockros, P.7
Kosty, M.8
Venditti, C.P.9
Phatak, P.D.10
Seese, N.K.11
Chorney, K.A.12
Ten Elshof, A.E.13
Gerhard, G.S.14
Chorney, M.15
-
17
-
-
0031941121
-
Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
-
Adams PC, Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria. Gastroenterology 1998; 114: 319-23.
-
(1998)
Gastroenterology
, vol.114
, pp. 319-323
-
-
Adams, P.C.1
Chakrabarti, S.2
-
18
-
-
0031969395
-
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
-
Crawford DH, Jazwinska EC, Cullen LM, Powell LW. 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
-
-
Crawford, D.H.1
Jazwinska, E.C.2
Cullen, L.M.3
Powell, L.W.4
-
19
-
-
0037132786
-
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359 (9302): 211-8.
-
(2002)
Lancet
, vol.359
, Issue.9302
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
20
-
-
0032845794
-
Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: Detection of a new polymorphic mutation
-
Simonsen K, Dissing J, Rudbeck L, Schwartz M. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: Detection of a new polymorphic mutation. Ann Hum Genet 1999; 63: 193-7.
-
(1999)
Ann Hum Genet
, vol.63
, pp. 193-197
-
-
Simonsen, K.1
Dissing, J.2
Rudbeck, L.3
Schwartz, M.4
-
21
-
-
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
-
22
-
-
39149136945
-
Hepatic pathology in relatives of patients with haemochromatosis
-
PJ Scheuer RW, AR Muir. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol 1962; 84: 53-64.
-
(1962)
J Pathol Bacteriol
, vol.84
, pp. 53-64
-
-
Scheuer, R.W.P.J.1
Muir, A.R.2
-
23
-
-
0032858222
-
Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes
-
Mangasser-Stephan K, Tag C, Reiser A, Gressner AM. Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes. Clin Chem 1999; 45: 1875-8.
-
(1999)
Clin Chem
, vol.45
, pp. 1875-1878
-
-
Mangasser-Stephan, K.1
Tag, C.2
Reiser, A.3
Gressner, A.M.4
-
24
-
-
0032712283
-
LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts
-
Bollhalder M, Mura C, Landt O, Maly FE. LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts. Clin Chem 1999; 45: 2275-8.
-
(1999)
Clin Chem
, vol.45
, pp. 2275-2278
-
-
Bollhalder, M.1
Mura, C.2
Landt, O.3
Maly, F.E.4
-
25
-
-
0032775931
-
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
-
Jeffrey GP, Chakrabarti S, Hegele RA, Adams PC. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 1999; 22: 325-6.
-
(1999)
Nat Genet
, vol.22
, pp. 325-326
-
-
Jeffrey, G.P.1
Chakrabarti, S.2
Hegele, R.A.3
Adams, P.C.4
-
27
-
-
0032899949
-
Inherited HFE-unrelated hemochromatosis in Italian families
-
Camaschella C, Fargion S, Sampietro M, Roetto A, Bosio S, Garozzo G, Arosio C, Piperno A. Inherited HFE-unrelated hemochromatosis in Italian families. Hepatology 1999; 29: 1563-4.
-
(1999)
Hepatology
, vol.29
, pp. 1563-1564
-
-
Camaschella, C.1
Fargion, S.2
Sampietro, M.3
Roetto, A.4
Bosio, S.5
Garozzo, G.6
Arosio, C.7
Piperno, A.8
-
28
-
-
0034529541
-
Heterozygosity for the hemochromatosis gene in liver diseases - Prevalence and effects on liver histology
-
Hohler T, Leininger S, Kohler HH, Schirmacher P, Galle PR. Heterozygosity for the hemochromatosis gene in liver diseases - Prevalence and effects on liver histology. Liver 2000; 20: 482-6.
-
(2000)
Liver
, vol.20
, pp. 482-486
-
-
Hohler, T.1
Leininger, S.2
Kohler, H.H.3
Schirmacher, P.4
Galle, P.R.5
-
29
-
-
0031820034
-
Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease
-
Grove J, Daly AK, Burt AD, Guzail M, James OF, Bassendine MF, Day CP. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 1998; 43: 262-6.
-
(1998)
Gut
, vol.43
, pp. 262-266
-
-
Grove, J.1
Daly, A.K.2
Burt, A.D.3
Guzail, M.4
James, O.F.5
Bassendine, M.F.6
Day, C.P.7
-
30
-
-
0033578246
-
Haemochromatosis gene C282Y homozygotes in an elderly male population
-
Willis G, Wimperis JZ, Smith KC, Fellows IW, Jennings BA. Haemochromatosis gene C282Y homozygotes in an elderly male population. Lancet 1999; 354 (9174): 221-2.
-
(1999)
Lancet
, vol.354
, Issue.9174
, pp. 221-222
-
-
Willis, G.1
Wimperis, J.Z.2
Smith, K.C.3
Fellows, I.W.4
Jennings, B.A.5
-
31
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. 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
Rossi, E.4
Summerville, L.5
Powell, L.W.6
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