-
1
-
-
0031030733
-
The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
-
Adams, P.C., Deugnier, Y., Moirand, R. and Brissot, P. (1997). The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 25: 162-166.
-
(1997)
Hepatology
, vol.25
, pp. 162-166
-
-
Adams, P.C.1
Deugnier, Y.2
Moirand, R.3
Brissot, P.4
-
2
-
-
0033380773
-
Mutation analysis of the HFE gene in Brazilian populations
-
Agostinho, M.F., Arruda, V.R., Basseres, D.S., Bordin, S., Soares, M.C., Menezes, R.C., Costa, F.F. and Saad, S.T. (1999). Mutation analysis of the HFE gene in Brazilian populations. Blood Cells Mol. Dis. 25: 324-327.
-
(1999)
Blood Cells Mol. Dis.
, vol.25
, pp. 324-327
-
-
Agostinho, M.F.1
Arruda, V.R.2
Basseres, D.S.3
Bordin, S.4
Soares, M.C.5
Menezes, R.C.6
Costa, F.F.7
Saad, S.T.8
-
3
-
-
0031213527
-
Compound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease?
-
Aguilar Martinez, P., Biron, C., Blanc, F., Masmejean, C., Jeanjean, P., Michel, H. and Schved, J.F. (1997). Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease? Blood Cells Mol. Dis. 23: 269-276.
-
(1997)
Blood Cells Mol. Dis.
, vol.23
, pp. 269-276
-
-
Aguilar Martinez, P.1
Biron, C.2
Blanc, F.3
Masmejean, C.4
Jeanjean, P.5
Michel, H.6
Schved, J.F.7
-
4
-
-
0035116099
-
Hemochromatosis: Diagnosis and management
-
Bacon, B.R. (2001). Hemochromatosis: diagnosis and management. Gastroenterology 120: 718-725.
-
(2001)
Gastroenterology
, vol.120
, pp. 718-725
-
-
Bacon, B.R.1
-
5
-
-
0032955556
-
Molecular medicine and hemochromatosis: At the crossroads
-
Bacon, B.R., Powell, L.W., Adams, P.C., Kresina, T.F. and Hoofnagle, J.H. (1999). Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 116: 193-207.
-
(1999)
Gastroenterology
, vol.116
, pp. 193-207
-
-
Bacon, B.R.1
Powell, L.W.2
Adams, P.C.3
Kresina, T.F.4
Hoofnagle, J.H.5
-
6
-
-
0033150066
-
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutations in Alabama hemochromatosis probands
-
Barton, J.C., Sawada-Hirai, R., Rothenberg, B.E. and Acton, R.T. (1999). Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutations in Alabama hemochromatosis probands. Blood Cells Mol. Dis. 15: 147-155.
-
(1999)
Blood Cells Mol. Dis.
, vol.15
, pp. 147-155
-
-
Barton, J.C.1
Sawada-Hirai, R.2
Rothenberg, B.E.3
Acton, R.T.4
-
7
-
-
0022656390
-
Value of hepatic iron measurement in early hemochromatosis and determination of the critical iron level associated with fibrosis
-
Basset, M.L., Halliday, J.W. and Powell, L.W. (1986). Value of hepatic iron measurement in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology 6: 24-29.
-
(1986)
Hepatology
, vol.6
, pp. 24-29
-
-
Basset, M.L.1
Halliday, J.W.2
Powell, L.W.3
-
8
-
-
0030827084
-
The significance of the 187G (H63D) mutation in hemochromatosis
-
Beutler, E. (1997). The significance of the 187G (H63D) mutation in hemochromatosis. Am. J. Hum. Genet. 61: 762-764.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 762-764
-
-
Beutler, E.1
-
9
-
-
0030221927
-
Mutation analysis in hereditary hemochromatosis
-
Beutler, E., Gelbart, T., West, C., Lee, P., Adams, M., Blackstone, R., Pockros, P., Kosty, M., Venditti, C.P., Phatak, P.D., Seese, N.K., Chorney, K.A., Ten Elshof, A.E., Gerhard, G.S. and Chorney, M. (1996). Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis. 22: 187-194.
-
(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
-
10
-
-
0036209551
-
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis
-
Bittencourt, P.L., Palacios, S.A., Couto, C.A., Cancado, E.L., Carrilho, F.J., Laudanna, A.A., Kalil, J., Gayotto, L.C. and Goldberg, A.C. (2002). Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Braz. J. Med. Biol. Res. 35: 329-335.
-
(2002)
Braz. J. Med. Biol. Res.
, vol.35
, pp. 329-335
-
-
Bittencourt, P.L.1
Palacios, S.A.2
Couto, C.A.3
Cancado, E.L.4
Carrilho, F.J.5
Laudanna, A.A.6
Kalil, J.7
Gayotto, L.C.8
Goldberg, A.C.9
-
11
-
-
17344362638
-
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America
-
Bonkovsky, H.L., Poh-Fitzpatrick, M., Pimstone, N., Obando, J., Di Bisceglie, A., Tattrie, C., Tortorelli, K., LeClair, P., Mercurio, M.G. and Lambrecht, R.W. (1998). Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 27: 1661-1669.
-
(1998)
Hepatology
, vol.27
, pp. 1661-1669
-
-
Bonkovsky, H.L.1
Poh-Fitzpatrick, M.2
Pimstone, N.3
Obando, J.4
Di Bisceglie, A.5
Tattrie, C.6
Tortorelli, K.7
LeClair, P.8
Mercurio, M.G.9
Lambrecht, R.W.10
-
12
-
-
0033198317
-
Non-alcoholic steatohepatitis and iron: Increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis
-
Bonkovsky, H., Jawaid, Q., Tortorelli, K., Leclair, P., Cobb, J., Lambrecht, R. and Banner, B. (1999). Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J. Hepatol. 31: 421-429.
-
(1999)
J. Hepatol.
, vol.31
, pp. 421-429
-
-
Bonkovsky, H.1
Jawaid, Q.2
Tortorelli, K.3
Leclair, P.4
Cobb, J.5
Lambrecht, R.6
Banner, B.7
-
13
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A., Dormishian, F., Domingo Jr., R., Ellis, M.C., Fullan, A., Hinton, L.M., Jones, N.L., Kimmel, B.E., Kronmal, G.S., Lauer, P., Lee, V.K., Loeb, D.B., Mapa, F.A., McClelland, E., Meyer, N.C., Mintier, G.A., Moeller, N., Moore, T., Morikang, E., Prass, C.E., Quintana, L., Stames, S.M., Schatzman, R.C., Brunke, K.J., Drayana, D.T., Resch, N.J., Bacon, B.R. and Wolff, R.K. (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 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 Jr., R.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
Prass, C.E.25
Quintana, L.26
Stames, S.M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayana, D.T.30
Resch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
14
-
-
0019813866
-
Formulation and application of a numerical scoring system for assessing histological activity in asymptomatic chronic active hepatitis
-
Knodell, R.G., Ishak, K.G., Black, W.C., Chen, T.S., Craig, R., Kaplowitz, N., Kiernan, T.W. and Wollman, J. (1981). Formulation and application of a numerical scoring system for assessing histological activity in asymptomatic chronic active hepatitis. Hepatology 1: 431-435.
-
(1981)
Hepatology
, vol.1
, pp. 431-435
-
-
Knodell, R.G.1
Ishak, K.G.2
Black, W.C.3
Chen, T.S.4
Craig, R.5
Kaplowitz, N.6
Kiernan, T.W.7
Wollman, J.8
-
15
-
-
0033369104
-
Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection?
-
Martinelli, A.L., Franco, R.F., Villanova, M.G., Figueiredo, J.F., Secaf, M., Tavella, M.H., Ramalho, L.N., Zucoloto, S. and Zago, M.A. (1999). Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection? Acta Haematol. 102: 152-156.
-
(1999)
Acta Haematol.
, vol.102
, pp. 152-156
-
-
Martinelli, A.L.1
Franco, R.F.2
Villanova, M.G.3
Figueiredo, J.F.4
Secaf, M.5
Tavella, M.H.6
Ramalho, L.N.7
Zucoloto, S.8
Zago, M.A.9
-
16
-
-
0033638582
-
Porphyria cutanea tarda in Brazilian patients: Association with hemochromatosis C282Y mutation and hepatitis C virus infection
-
Martinelli, A.L., Zago, M.A., Roselino, A.M., Filho, A.B., Villanova, M.G., Secaf, M., Tavella, M.H., Ramalho, L.N., Zucoloto, S. and Franco, R.F. (2000). Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am. J. Gastroenterol. 95: 3516-3521.
-
(2000)
Am. J. Gastroenterol.
, vol.95
, pp. 3516-3521
-
-
Martinelli, A.L.1
Zago, M.A.2
Roselino, A.M.3
Filho, A.B.4
Villanova, M.G.5
Secaf, M.6
Tavella, M.H.7
Ramalho, L.N.8
Zucoloto, S.9
Franco, R.F.10
-
17
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D. and Robson, K.J.H. (1997). Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 34: 275-278.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
Robson, K.J.H.4
-
18
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
19
-
-
0033561342
-
HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
-
Mura, C., Raguenes, O. and Férec, C. (1999). HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93: 2502-2505.
-
(1999)
Blood
, vol.93
, pp. 2502-2505
-
-
Mura, C.1
Raguenes, O.2
Férec, C.3
-
20
-
-
0029913626
-
Longterm survival in patients with hereditary hemochromatosis
-
Niederau, C., Fischer, R., Purschel, A., Stremmel, W., Haussinger, D. and Strohmeyer, G. (1996). Longterm survival in patients with hereditary hemochromatosis. Gastroenterology 110: 1304-1307.
-
(1996)
Gastroenterology
, vol.110
, pp. 1304-1307
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
Stremmel, W.4
Haussinger, D.5
Strohmeyer, G.6
-
21
-
-
0033517343
-
A population based study of the clinical expression of the hemochromatosis gene
-
Olynk, J.K., Cullen, D.J., Aquila, S., Rossi, E., Summerville, L. and Powell, L.W. (1999). A population based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 341: 718-724.
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 718-724
-
-
Olynk, J.K.1
Cullen, D.J.2
Aquila, S.3
Rossi, E.4
Summerville, L.5
Powell, L.W.6
-
22
-
-
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. and Gasparini, P. (1999). Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N. Engl. J. Med. 341: 755-757.
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 755-757
-
-
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
-
23
-
-
0031957721
-
Heterogeneity of hemochromatosis in Italy
-
Piperno, A., Sampietro, M., Pietrangelo, A., Arosio, C., Lupica, L., Montosi, G., Vergani, A., Fraquelli, M., Girelli, D., Pasquero, P., Roetto, A., Gasparini, P., Fargion, S., Conte, D. and Camaschella, C. (1998). Heterogeneity of hemochromatosis in Italy. Gastroenterology 114: 996-1002.
-
(1998)
Gastroenterology
, vol.114
, pp. 996-1002
-
-
Piperno, A.1
Sampietro, M.2
Pietrangelo, A.3
Arosio, C.4
Lupica, L.5
Montosi, G.6
Vergani, A.7
Fraquelli, M.8
Girelli, D.9
Pasquero, P.10
Roetto, A.11
Gasparini, P.12
Fargion, S.13
Conte, D.14
Camaschella, C.15
-
24
-
-
0033868022
-
Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
-
Piperno, A., Arosio, C., Fossati, L., Vigano, M., Trombini, P., Vergani, A. and Mancia, G. (2000). Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis. Gastroenterology 119: 441-445.
-
(2000)
Gastroenterology
, vol.119
, pp. 441-445
-
-
Piperno, A.1
Arosio, C.2
Fossati, L.3
Vigano, M.4
Trombini, P.5
Vergani, A.6
Mancia, G.7
-
25
-
-
0031016791
-
Increased frequency of the haemochromatosis C282Y mutation in sporadic porphyria cutanea tarda
-
Roberts, A.G., Whatley, S.D., Morgan, R.R., Worwood, M. and Elder, G.H. (1997). Increased frequency of the haemochromatosis C282Y mutation in sporadic porphyria cutanea tarda. Lancet 349: 321-323.
-
(1997)
Lancet
, vol.349
, pp. 321-323
-
-
Roberts, A.G.1
Whatley, S.D.2
Morgan, R.R.3
Worwood, M.4
Elder, G.H.5
-
26
-
-
0024556046
-
Hepatocellular transferrin receptor expression in secondary siderosis
-
Sciot, R., van Eyken, P., Facchetti, F., Callea, F., van der Steen, K., van Dijck, H., van Parys, G. and Desmet, V.J. (1989). Hepatocellular transferrin receptor expression in secondary siderosis. Liver 9: 52-61.
-
(1989)
Liver
, vol.9
, pp. 52-61
-
-
Sciot, R.1
Van Eyken, P.2
Facchetti, F.3
Callea, F.4
Van Der Steen, K.5
Van Dijck, H.6
Van Parys, G.7
Desmet, V.J.8
-
27
-
-
0031801787
-
Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C
-
Smith, B.C., Gorve, J., Guzail, M.A., Day, C.P., Daly, A.K., Burt, A.D. and Bassendine, M.F. (1998). Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology 27: 1695-1699.
-
(1998)
Hepatology
, vol.27
, pp. 1695-1699
-
-
Smith, B.C.1
Gorve, J.2
Guzail, M.A.3
Day, C.P.4
Daly, A.K.5
Burt, A.D.6
Bassendine, M.F.7
-
28
-
-
0032030738
-
The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients
-
Stuart, K.A., Busfield, F., Jazwinska, E.C., Gibson, P., Butterworth, L.A., Cooksley, W.G., Powell, L.W. and Crawford, D.H. (1998). The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J. Hepatol. 28: 404-409.
-
(1998)
J. Hepatol.
, vol.28
, pp. 404-409
-
-
Stuart, K.A.1
Busfield, F.2
Jazwinska, E.C.3
Gibson, P.4
Butterworth, L.A.5
Cooksley, W.G.6
Powell, L.W.7
Crawford, D.H.8
-
29
-
-
0035038147
-
Diagnosis and management of hemochromatosis
-
Tavill, A.S. (2001). Diagnosis and management of hemochromatosis. Hepatology 33: 1321-1328.
-
(2001)
Hepatology
, vol.33
, pp. 1321-1328
-
-
Tavill, A.S.1
|