-
1
-
-
0022368621
-
Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis
-
Niederau C., Fischer R., Sonnenberg A., Stremmel W., Trampsch H.J., Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N. Engl. J. Med. 313:1985;1256-1262.
-
(1985)
N. Engl. J. Med.
, vol.313
, pp. 1256-1262
-
-
Niederau, C.1
Fischer, R.2
Sonnenberg, A.3
Stremmel, W.4
Trampsch, H.J.5
Strohmeyer, G.6
-
2
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
-
Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., Dormishian F., Domingo 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., Starnes S.M., Schatzman R.C., Brunke K.J., Drayna D.T., Risch N.J., Bacon B.R., Wolff R.K. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat. Genet. 13:1996;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.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
Starnes, S.M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
3
-
-
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., Tenelshof A.E., Gerhard G.S., Chorney M. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis. 22:1996;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
Tenelshof, A.E.13
Gerhard, G.S.14
Chorney, M.15
-
4
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut. 41:1997;841-844.
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
-
5
-
-
0033150066
-
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
-
Barton J.C., Sawada-Hirai R., Rothenberg B.E., Acton R.T. 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. 25:1999;147-155.
-
(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
-
-
0034999045
-
Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
-
Aguilar-Martinez P., Bismuth M., Picot M.C., Thelcide C., Pageaux G.P., Blanc F., Blanc P., Schved J.F., Larrey D. Variable phenotypic presentation of iron overload in H63D homozygotes are genetic modifiers the cause? Gut. 48:2001;836-842.
-
(2001)
Gut
, vol.48
, pp. 836-842
-
-
Aguilar-Martinez, P.1
Bismuth, M.2
Picot, M.C.3
Thelcide, C.4
Pageaux, G.P.5
Blanc, F.6
Blanc, P.7
Schved, J.F.8
Larrey, D.9
-
7
-
-
0030766989
-
Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers
-
Bassett M.L., Leggett B.A., Halliday J.W., Webb S., Powell L.W. Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers. Hepatology. 27:1997;517-524.
-
(1997)
Hepatology
, vol.27
, pp. 517-524
-
-
Bassett, M.L.1
Leggett, B.A.2
Halliday, J.W.3
Webb, S.4
Powell, L.W.5
-
8
-
-
0031793132
-
The significance of haemochromatosis gene mutations in the general population: Implications for screening
-
Burt M.J., George P.M., Upton J.D., Collett J.A., Frampton C.M., Chapman T.M., Walmsley T.A., Chapman B.A. The significance of haemochromatosis gene mutations in the general population implications for screening . Gut. 43:1998;830-836.
-
(1998)
Gut
, vol.43
, pp. 830-836
-
-
Burt, M.J.1
George, P.M.2
Upton, J.D.3
Collett, J.A.4
Frampton, C.M.5
Chapman, T.M.6
Walmsley, T.A.7
Chapman, B.A.8
-
9
-
-
0034883430
-
HFE mutations, iron deficiency and overload in 10500 blood donors
-
Jackson H.A., Carter K., Darke C., Guttridge M.G., Ravine D., Hutton R.D., Napier J.A., Worwood M. HFE mutations, iron deficiency and overload in 10500 blood donors. Brit. J. Haematol. 114:2001;474-484.
-
(2001)
Brit. J. Haematol.
, vol.114
, pp. 474-484
-
-
Jackson, H.A.1
Carter, K.2
Darke, C.3
Guttridge, M.G.4
Ravine, D.5
Hutton, R.D.6
Napier, J.A.7
Worwood, M.8
-
10
-
-
0037132786
-
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E., Felitti V.J., Koziol J.A., Ho N.J., Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 359:2002;211-218.
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
11
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
Olynyk J.K., Cullen D.J., Aquilia S., Rossi E., Summerville L., Powell L.W. A population-based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 341:1999;718-724.
-
(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
-
12
-
-
0034105259
-
Incidence of liver disease in people with HFE mutations
-
Willis G., Wimperis J.Z., Lonsdale R., Fellows I.W., Watson M.A., Skipper L.M., Jennings B.A. Incidence of liver disease in people with HFE mutations. Gut. 46:2000;401-404.
-
(2000)
Gut
, vol.46
, pp. 401-404
-
-
Willis, G.1
Wimperis, J.Z.2
Lonsdale, R.3
Fellows, I.W.4
Watson, M.A.5
Skipper, L.M.6
Jennings, B.A.7
-
13
-
-
0034142276
-
HFE prevalence of HFE haemochromatosis gene mutations in unselected male patients with type 2 diabetes
-
Sampson M.J., Williams T., Heyburn P.J., Jennings B.A., Wimperis J.Z., Willis G. HFE prevalence of HFE haemochromatosis gene mutations in unselected male patients with type 2 diabetes. J. Lab. Clin. Med. 135:2000;170-173.
-
(2000)
J. Lab. Clin. Med.
, vol.135
, pp. 170-173
-
-
Sampson, M.J.1
Williams, T.2
Heyburn, P.J.3
Jennings, B.A.4
Wimperis, J.Z.5
Willis, G.6
-
14
-
-
0033578246
-
HFE (haemochromatosis gene) C282Y homozygotes in an elderly male population
-
Willis G., Wimperis J.Z., Smith K.C., Fellows I.W., Jennings B.A. HFE (haemochromatosis gene) C282Y homozygotes in an elderly male population. Lancet. 354:1999;221-222.
-
(1999)
Lancet
, vol.354
, pp. 221-222
-
-
Willis, G.1
Wimperis, J.Z.2
Smith, K.C.3
Fellows, I.W.4
Jennings, B.A.5
-
15
-
-
0032775931
-
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
-
Jeffrey G.P., Chakrabarti S., Hegele R.A., Adams P.C. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat. Genet. 22:1999;325-326.
-
(1999)
Nat. Genet.
, vol.22
, pp. 325-326
-
-
Jeffrey, G.P.1
Chakrabarti, S.2
Hegele, R.A.3
Adams, P.C.4
-
16
-
-
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. 63:1999;193-197.
-
(1999)
Ann. Hum. Genet.
, vol.63
, pp. 193-197
-
-
Simonsen, K.1
Dissing, J.2
Rudbeck, L.3
Schwartz, M.4
-
17
-
-
0036839568
-
Mild iron overload in patients carrying the HFE S65C gene mutation: A retrospective study in patients with suspected iron overload and healthy controls
-
Holmstrom P., Marmur J., Eggertsen G., Gafvels M., Stal P. Mild iron overload in patients carrying the HFE S65C gene mutation a retrospective study in patients with suspected iron overload and healthy controls . Gut. 51:2002;723-730.
-
(2002)
Gut
, vol.51
, pp. 723-730
-
-
Holmstrom, P.1
Marmur, J.2
Eggertsen, G.3
Gafvels, M.4
Stal, P.5
-
18
-
-
0036428690
-
No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: The Leiden 85-plus Study
-
Van Aken M.O., de Craen A.J.M., Gussekloo J., Hanifi Moghaddam P., Vandenbroucke J.P., Heijmans B.T., Slagboom P.E., Westendorp R.G.J. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old the Leiden 85-plus Study . Eur. J. Clin. Invest. 32:2002;750-754.
-
(2002)
Eur. J. Clin. Invest.
, vol.32
, pp. 750-754
-
-
Van Aken, M.O.1
De Craen, A.J.M.2
Gussekloo, J.3
Hanifi Moghaddam, P.4
Vandenbroucke, J.P.5
Heijmans, B.T.6
Slagboom, P.E.7
Westendorp, R.G.J.8
-
19
-
-
0035851274
-
Association of mutations in the hemochromatosis gene with shorter life expectancy
-
Bathum L., Christiansen L., Nybo H., Ranberg K.A., Gaist D., Jeune B., Petersen N.E., Vaupel J., Christiansen K. Association of mutations in the hemochromatosis gene with shorter life expectancy. Arch. Intern. Med. 161:2001;2441-2444.
-
(2001)
Arch. Intern. Med.
, vol.161
, pp. 2441-2444
-
-
Bathum, L.1
Christiansen, L.2
Nybo, H.3
Ranberg, K.A.4
Gaist, D.5
Jeune, B.6
Petersen, N.E.7
Vaupel, J.8
Christiansen, K.9
-
20
-
-
0042793519
-
Penetrance of hemochromatosis
-
Waalen J., Felitti V., Gelbert T., Ho N.J., Beutler E. Penetrance of hemochromatosis. Blood Cells Mol. Dis. 29:2002;418-432.
-
(2002)
Blood Cells Mol. Dis.
, vol.29
, pp. 418-432
-
-
Waalen, J.1
Felitti, V.2
Gelbert, T.3
Ho, N.J.4
Beutler, E.5
-
21
-
-
0031214480
-
Impact of HLA-H mutations on iron stores in healthy elderly men and women
-
Garry P.J., Montoya G.D., Baumgartner R.N., Liang H.C., Williams T.M., Brodie S.G. Impact of HLA-H mutations on iron stores in healthy elderly men and women. Blood Cells Mol. Dis. 23:1997;277-287.
-
(1997)
Blood Cells Mol. Dis.
, vol.23
, pp. 277-287
-
-
Garry, P.J.1
Montoya, G.D.2
Baumgartner, R.N.3
Liang, H.C.4
Williams, T.M.5
Brodie, S.G.6
-
22
-
-
0344837836
-
Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry
-
Beutler E., Felitti V., Gelbart T., Waalen J. Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry. Brit. J. Haematol. 120:2003;887-893.
-
(2003)
Brit. J. Haematol.
, vol.120
, pp. 887-893
-
-
Beutler, E.1
Felitti, V.2
Gelbart, T.3
Waalen, J.4
-
23
-
-
0025913745
-
Long-term survival analysis in hereditary hemochromatosis
-
Adams P.C., Speechley M., Kertesz A.E. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology. 101:1991;368-372.
-
(1991)
Gastroenterology
, vol.101
, pp. 368-372
-
-
Adams, P.C.1
Speechley, M.2
Kertesz, A.E.3
-
24
-
-
0026609144
-
Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis
-
Fargion S., Mandelli C., Piperno A., Cesana B., Fracanzani A.L., Fraquelli M., Bianchi P.A., Fiorelli G., Conte D. Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology. 15:1992;655-659.
-
(1992)
Hepatology
, vol.15
, pp. 655-659
-
-
Fargion, S.1
Mandelli, C.2
Piperno, A.3
Cesana, B.4
Fracanzani, A.L.5
Fraquelli, M.6
Bianchi, P.A.7
Fiorelli, G.8
Conte, D.9
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