-
1
-
-
0030864560
-
Clinical and family studies in genetic haemochromatosis: Microsatellite and HEE studies in live atypical families
-
Adams, P.C., Campion, M.L., Gandon, G., Le Gall, J.-Y., David, V. & Jouanolle, A.M. (1987) Clinical and family studies in genetic haemochromatosis: microsatellite and HEE studies in live atypical families. Hepatology, 26, 986-990.
-
(1987)
Hepatology
, vol.26
, pp. 986-990
-
-
Adams, P.C.1
Campion, M.L.2
Gandon, G.3
Le Gall, J.-Y.4
David, V.5
Jouanolle, A.M.6
-
2
-
-
0028802963
-
Screening for hemochromatosis in children of homozygotes: Prevalence and cost-effectiveness
-
Adams, P.C., Kertesz, A.E. & Valberg, L.S. (1995) Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology, 22, 1720-1727.
-
(1995)
Hepatology
, vol.22
, pp. 1720-1727
-
-
Adams, P.C.1
Kertesz, A.E.2
Valberg, L.S.3
-
3
-
-
0030221927
-
Mutation analysis in hereditary haemochromatosis
-
Beutler, E., Gelbert, 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., Tenershof, A.H., Gernard, G.S. & Chorney, M. (1996) Mutation analysis in hereditary haemochromatosis. Blood Cells, Molecules, and Diseases, 22, 187-194.
-
(1996)
Blood Cells, Molecules, and Diseases
, vol.22
, pp. 187-194
-
-
Beutler, E.1
Gelbert, 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
Tenershof, A.H.13
Gernard, G.S.14
Chorney, M.15
-
4
-
-
0031047769
-
Mutations in the MHC class I-like candidate gene for haemochromatosis in French patients
-
Borot, N., Roth, M.-F. Malfroy, L., Demangel, C., Vinel, J.-R. Pascal, J.-P. & Coppin, H. (1997) Mutations in the MHC class I-like candidate gene for haemochromatosis in French patients. Immunogenetics, 45, 320-324.
-
(1997)
Immunogenetics
, vol.45
, pp. 320-324
-
-
Borot, N.1
Roth, M.-F.2
Malfroy, L.3
Demangel, C.4
Vinel, J.-R.5
Pascal, J.-P.6
Coppin, H.7
-
5
-
-
0000702937
-
Hemochromatosis
-
(ed. by C. R. Scriver, A. L. Beaudet and W. S. Sly), McGraw-Hill, New York
-
Bothwell, T.H., Charlton, R.W. & Motulsky, A.C. (1995) Hemochromatosis. The Molecular Basis of Inherited Disease (ed. by C. R. Scriver, A. L. Beaudet and W. S. Sly), pp. 2237-2269. McGraw-Hill, New York.
-
(1995)
The Molecular Basis of Inherited Disease
, pp. 2237-2269
-
-
Bothwell, T.H.1
Charlton, R.W.2
Motulsky, A.C.3
-
6
-
-
0029857540
-
Mutation analysis in hereditary haemochromatosis: Commentary
-
Calandro, L., Thorsen, T., Barcellos, L., Griggs, J., Baer, D. & Sensabaugh, G.F. (1996) Mutation analysis in hereditary haemochromatosis: commentary. Blood Cells, Molecules, and Diseases, 22, 194A-194B.
-
(1996)
Blood Cells, Molecules, and Diseases
, vol.22
-
-
Calandro, L.1
Thorsen, T.2
Barcellos, L.3
Griggs, J.4
Baer, D.5
Sensabaugh, G.F.6
-
7
-
-
16944363480
-
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
-
Carella, M., D'Ambrosio, L., Totaro, A., Grifa, A., Valentino, M.A., Piperno, A., Girelli, D., Roetto, A., Franco, B., Gasparini, P. & Canaschella, C. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. American Journal of Human Genetics, 60, 828-832.
-
(1997)
American Journal of Human Genetics
, 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
Canaschella, C.11
-
9
-
-
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, 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. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics, 13, 399-408.
-
(1996)
Nature Genetics
, 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..
-
10
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder, J.N., Penny, D.M., Irrinki, A., Lee, V.K., Lebron, J.A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P.J. & Schatzman, R.C. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proceedings of the National Academy of Sciences of the United States of America, 95, 1472-1477.
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, 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
-
11
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta-2-microglobulin interaction and cell surface expression
-
Feder, J.N., Tsuchihashi, Z., Irrinki, A., Lee, V.K., Mapa, F.A., Morikang, E., Prass, C.E., Starnes, S.M., Wolff, R.K., Parkkila, S., Sly, W.S. & Schatzman, R.C. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta-2-microglobulin interaction and cell surface expression. Journal of Biological Chemistry, 272, 14025-14028.
-
(1997)
Journal of Biological Chemistry
, vol.272
, pp. 14025-14028
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
Lee, V.K.4
Mapa, F.A.5
Morikang, E.6
Prass, C.E.7
Starnes, S.M.8
Wolff, R.K.9
Parkkila, S.10
Sly, W.S.11
Schatzman, R.C.12
-
12
-
-
0031888618
-
Hereditary haemochromatosis as an immunological disease
-
Gerhard, G.S., Ten Elshoff, A.E. & Chorney, M.J. (1998) Hereditary haemochromatosis as an immunological disease. British Journal of Haematology, 100, 247-255.
-
(1998)
British Journal of Haematology
, vol.100
, pp. 247-255
-
-
Gerhard, G.S.1
Ten Elshoff, A.E.2
Chorney, M.J.3
-
13
-
-
0030294028
-
Haemochromatosis and HLAH
-
Jazwinska, E.C., Cullen, L.M., Busfield, R. Pyper, W.R., Webb, S.I., Puwell, L.W., Morris, C.P. & Walsh, T.P. (1996) Haemochromatosis and HLAH. Nature Genetics, 14, 249-251.
-
(1996)
Nature Genetics
, vol.14
, pp. 249-251
-
-
Jazwinska, E.C.1
Cullen, L.M.2
Busfield, R.3
Pyper, W.R.4
Webb, S.I.5
Puwell, L.W.6
Morris, C.P.7
Walsh, T.P.8
-
14
-
-
16144368650
-
Haemochromatosis and HLA-H
-
Jouanolle, A.M., Gandon, G., Jezequel, P., Blayau, M., Campion, M.L., Yaouanq, J., Mosser, J., Fergelot, P., Chauvel, B., Bouric, P., Carn, G., Andrieux, N., Gicquel, I., Legall, J.Y. & David, V. (1996) Haemochromatosis and HLA-H. Nature Genetics, 14, 251-252.
-
(1996)
Nature Genetics
, vol.14
, pp. 251-252
-
-
Jouanolle, A.M.1
Gandon, G.2
Jezequel, P.3
Blayau, M.4
Campion, M.L.5
Yaouanq, J.6
Mosser, J.7
Fergelot, P.8
Chauvel, B.9
Bouric, P.10
Carn, G.11
Andrieux, N.12
Gicquel, I.13
Legall, J.Y.14
David, V.15
-
15
-
-
0030724680
-
A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation
-
Merryweather-Clarke, A.T., Liu, Y.-T., Shearman, J.D., Pointon, J.J. & Robson, K.J.H. (1997a) A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation. British Journal of Haematology, 99, 460-463.
-
(1997)
British Journal of Haematology
, vol.99
, pp. 460-463
-
-
Merryweather-Clarke, A.T.1
Liu, Y.-T.2
Shearman, J.D.3
Pointon, J.J.4
Robson, K.J.H.5
-
16
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D. & Robson, K.J.H. (1997b) Global prevalence of putative haemochromatosis mutations. Journal of Medical Genetics, 34, 275-278.
-
(1997)
Journal of Medical Genetics
, vol.34
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
Robson, K.J.H.4
-
17
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau, C., Fischer, R., Purschel, A., Stremmel, W., Haussinger, D. & Strohmeyer, G. (1996) Long-term survival in patients with hereditary hemochromatosis. Gastroenterology, 110, 1107-1119.
-
(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
-
18
-
-
0015153652
-
Determination of serum iron and latent iron-binding capacity (LIBC)
-
Persijn, J.P., van der Silk, W. & Riethorst, A. (1971) Determination of serum iron and latent iron-binding capacity (LIBC). Clinica Chimica Acta, 35, 91-98.
-
(1971)
Clinica Chimica Acta
, vol.35
, pp. 91-98
-
-
Persijn, J.P.1
Van Der Silk, W.2
Riethorst, A.3
-
19
-
-
0030101359
-
Detection of the factor V Leiden mutation using whole blood PCR
-
Rees, D.C., Cox, M. & Clegg, J.B. (1996) Detection of the factor V Leiden mutation using whole blood PCR. Thrombosis and Haemostasis, 75, 520-521.
-
(1996)
Thrombosis and Haemostasis
, vol.75
, pp. 520-521
-
-
Rees, D.C.1
Cox, M.2
Clegg, J.B.3
-
20
-
-
0030884018
-
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
-
Rhodes, D., Raha-Chowdury, R., Cox, T. & Trowsdale, J. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. Journal of Medical Genetics, 34, 761-764.
-
(1997)
Journal of Medical Genetics
, vol.34
, pp. 761-764
-
-
Rhodes, D.1
Raha-Chowdury, R.2
Cox, T.3
Trowsdale, J.4
-
21
-
-
0031016791
-
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
-
Roberts, A.G., Whatley, S.D., Morgan, R.R., Worwood, M. & Elder, G.H. (1997) Increased frequency of the haemochromatosis Cys282Tyr 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
-
22
-
-
0031214025
-
A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in Eastern England
-
Willis, G., Jennings, B., Goodman, E., Fellows, I. & Wimperis, J. (1997) A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in Eastern England. Blood Cells, Molecules, and Diseases, 23, 288-291.
-
(1997)
Blood Cells, Molecules, and Diseases
, vol.23
, pp. 288-291
-
-
Willis, G.1
Jennings, B.2
Goodman, E.3
Fellows, I.4
Wimperis, J.5
-
24
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
Worwood, M., Shearman, J.D., Wallace, D.F., Dooley, J., Merryweather-Clarke, A.T., Pointon, J.J., Rosenberg, W.M.C., Bowen, D.J., Burnett, A.K., Jackson, H.A., Lawless, S., Raha-Chowdhury, R., Partridge, J., Williams, R., Bomford, A., Walker, A.P. & Robson, K.J.H. for the UK Haemochromatosis Consortium (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut, 41, 841-844.
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
Worwood, M.1
Shearman, J.D.2
Wallace, D.F.3
Dooley, J.4
Merryweather-Clarke, A.T.5
Pointon, J.J.6
Rosenberg, W.M.C.7
Bowen, D.J.8
Burnett, A.K.9
Jackson, H.A.10
Lawless, S.11
Raha-Chowdhury, R.12
Partridge, J.13
Williams, R.14
Bomford, A.15
Walker, A.P.16
Robson, K.J.H.17
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