-
1
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
J.N. Feder A. Gnirke W. Thomas Z. Tsuchihashi D.A. Ruddy A. Basava F. Dormishian R. Domingo Jr. M.C. Ellis A. Fullan L.M. Hinton N.L. Jones B.E. Kimmel G.S. Kronmal P. Lauer V.K. Lee D.B. Loeb F.A. Mapa E. McClelland N.C. Meyer G.A. Mintier N. Moeller T. Moore E. Morikang C.E. Prass L. Qiuntana S.M. Starnes R.C. Schatzmann K.J. Brunke D. Drauna N.J. Risch B.R. Bacon R.K. Wolff A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis 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
Qiuntana, L.26
Starnes, S.M.27
Schatzmann, R.C.28
Brunke, K.J.29
Drauna, D.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
2
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis to 7q22
-
C. 2Camaschella A. Roetto A. Cali M. De Gobbi G. Garozzo M. Carella N. Majorano A. Totaro P. Gasparini The gene TFR2 is mutated in a new type of haemochromatosis to 7q22 Nat. Genet. 25 2000 14 15
-
(2000)
Nat. Genet.
, vol.25
, pp. 14-15
-
-
2Camaschella, 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
-
3
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
G. Montosi A. Donovan A. Totaro C. Garuti E. Pignatti S. Cassanelli C.C. Trenor P. Gasparini N.C. Andrews A. Pietrangelo Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene J. Clin. Invest. 108 2001 619 623
-
(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
-
6
-
-
0031729616
-
Prevalence of the C282Y-and the H63D-mutations in the HFE-gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany
-
P. Nielsen S. Carpinteiro R. Fischer J.M. Cabeda G. Porto E.E. Gabbe Prevalence of the C282Y-and the H63D-mutations in the HFE-gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany Brit. J. Haematol. 103 1998 842 845
-
(1998)
Brit. J. Haematol.
, vol.103
, pp. 842-845
-
-
Nielsen, P.1
Carpinteiro, S.2
Fischer, R.3
Cabeda, J.M.4
Porto, G.5
Gabbe, E.E.6
-
7
-
-
85120188403
-
-
Powell, L. W.1994Primary iron overload. In Iron Metabolism in Health and Disease (Brock, J. H., Halliday, J. W., Pippard, M. J., Powell, L. W., Eds.) pp. 227–270. Saunders, London.
-
-
-
-
8
-
-
0034948661
-
Haemochromatosis: Iron still matters
-
M.L. Bassett Haemochromatosis: Iron still matters Intern. Med. J. 31 2001 237 242
-
(2001)
Intern. Med. J.
, vol.31
, pp. 237-242
-
-
Bassett, M.L.1
-
9
-
-
0030800954
-
Serum ferritin iron, a new test, measures human body iron stores unconfounded by inflammation
-
V. Herbert E. Jayatilleke S. Shaw A.S. Rosman P. Giardina R.W. Grady B. Bowman E.W. Gunter Serum ferritin iron, a new test, measures human body iron stores unconfounded by inflammation Stem Cells 15 1997 291 296
-
(1997)
Stem Cells
, vol.15
, pp. 291-296
-
-
Herbert, V.1
Jayatilleke, E.2
Shaw, S.3
Rosman, A.S.4
Giardina, P.5
Grady, R.W.6
Bowman, B.7
Gunter, E.W.8
-
10
-
-
0025230594
-
Non-invasive quantification of liver iron-overload by magnetic resonance imaging
-
J.P. Kaltwasser R. Gottschalk K.P. Schalk W. Hartl Non-invasive quantification of liver iron-overload by magnetic resonance imaging Brit. J. Haematol. 74 1990 360 363
-
(1990)
Brit. J. Haematol.
, vol.74
, pp. 360-363
-
-
Kaltwasser, J.P.1
Gottschalk, R.2
Schalk, K.P.3
Hartl, W.4
-
11
-
-
0028136916
-
Liver iron quantification: studies in aqueous iron solutions, iron overloaded rats and patients with hereditary hemochromatosis
-
R. Engelhardt J.H. Langkowski R. Fischer P. Nielsen H. Kooijmann H.C. Heinrich E. Bücheler Liver iron quantification: studies in aqueous iron solutions, iron overloaded rats and patients with hereditary hemochromatosis Magn. Reson. Imaging 12 1994 007 999
-
(1994)
Magn. Reson. Imaging
, vol.12
, pp. 007-999
-
-
Engelhardt, R.1
Langkowski, J.H.2
Fischer, R.3
Nielsen, P.4
Kooijmann, H.5
Heinrich, H.C.6
Bücheler, E.7
-
12
-
-
0034000586
-
Quantitative mapping of transverse relaxivity (1/T) in hepatic iron overload: a single spin-echo imaging methodology
-
P.R. Clark T.G. St. Pierre Quantitative mapping of transverse relaxivity (1/T) in hepatic iron overload: a single spin-echo imaging methodology Magn. Reson. Imaging 18 2000 431 438
-
(2000)
Magn. Reson. Imaging
, vol.18
, pp. 431-438
-
-
Clark, P.R.1
St. Pierre, T.G.2
-
13
-
-
85120198436
-
-
Fischer, R.1998Liver iron susceptometry. In Magnetism in Medicine (Andrä, W., Nowak, H., Eds) pp. 286–301. Wiley-VCH Berlin, New York.
-
-
-
-
14
-
-
0001256479
-
Neue Möglichkeiten in der Diagnose der hereditären Hämochromatose. HFE-Mutations-Diagnostik und nichtinvasive Leber-Eisen-Quantifizierung mit einem SQUID- Biosusceptometer
-
P. Nielsen R. Fischer R. Engelhardt B. Dresow E.E Gabbe Neue Möglichkeiten in der Diagnose der hereditären Hämochromatose. HFE-Mutations-Diagnostik und nichtinvasive Leber-Eisen-Quantifizierung mit einem SQUID- Biosusceptometer Deutsches Ärzteblatt 95 1998 A2915 2921
-
(1998)
Deutsches Ärzteblatt
, vol.95
, pp. A2915-2921
-
-
Nielsen, P.1
Fischer, R.2
Engelhardt, R.3
Dresow, B.4
Gabbe, E.E5
-
15
-
-
85120229671
-
-
Fischer, R., Engelhardt, R., Heinrich, H.C., Kessler, M., and Nielsen, P.1989The calibration problem in liver iron susceptometry. In Advances in Biomagnetism (Williamson, S.J., Hoke, M., Stroink, G., Kotani, M., Eds), pp. 501–504. Plenum, New York
-
-
-
-
16
-
-
0033796970
-
Serum ferritin iron in iron overload and liver damage : correlation to body iron stores and diagnostic relevance
-
P. Nielsen U. Günther M. Dürken R. Fischer J. Düllmann Serum ferritin iron in iron overload and liver damage : correlation to body iron stores and diagnostic relevance J. Lab. Clin. Med. 135 2000 413 418
-
(2000)
J. Lab. Clin. Med.
, vol.135
, pp. 413-418
-
-
Nielsen, P.1
Günther, U.2
Dürken, M.3
Fischer, R.4
Düllmann, J.5
-
17
-
-
0028862502
-
Liver iron stores in patients with posttransfusional siderosis under iron chelation with deferoxamine or deferiprone
-
P. Nielsen R. Fischer P. Tondüry E.E. Gabbe G.E. Janka Liver iron stores in patients with posttransfusional siderosis under iron chelation with deferoxamine or deferiprone Brit. J. Haematol. 91 1995 827 833
-
(1995)
Brit. J. Haematol.
, vol.91
, pp. 827-833
-
-
Nielsen, P.1
Fischer, R.2
Tondüry, P.3
Gabbe, E.E.4
Janka, G.E.5
-
19
-
-
17944369464
-
Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons
-
A. Asberg K. Hveem K. Thorstensen E. Ellekjter K. Kannelonning U. Fjosne T.B. Halvorsen H.B. Smethurst E. Sagen K.S. Bjerve Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons Scand. J. Gastroenterol. 36 2001 1108 1115
-
(2001)
Scand. J. Gastroenterol.
, vol.36
, pp. 1108-1115
-
-
Asberg, A.1
Hveem, K.2
Thorstensen, K.3
Ellekjter, E.4
Kannelonning, K.5
Fjosne, U.6
Halvorsen, T.B.7
Smethurst, H.B.8
Sagen, E.9
Bjerve, K.S.10
-
20
-
-
0037132786
-
Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
E. Beutler V.J. Felitti J.A. Koziol N.J. Ho T. Gelbart Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA Lancet 59 2002 211 218
-
(2002)
Lancet
, vol.59
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
21
-
-
85120228978
-
-
Nielsen, P.2000Gendiagnostische Möglichkeiten der hereditären Hämochromatose. In Handbuch der molekularen Medizin Band 6. Ausgewählte monogen bedingte Erkrankungen, Teil 1, (Ganten, D., Ruckpaul, K., Eds.) pp. 454–475. Springer-Verlag, Berlin, Heidelberg.
-
-
-
-
23
-
-
0017644189
-
Characterisation of serum ferritin in iron overload: Possible identity to natural apoferritin
-
P. Arosio M. Yokota J.W. Drysdale Characterisation of serum ferritin in iron overload: Possible identity to natural apoferritin Brit. J. Haematol. 36 1977 199 207
-
(1977)
Brit. J. Haematol.
, vol.36
, pp. 199-207
-
-
Arosio, P.1
Yokota, M.2
Drysdale, J.W.3
-
24
-
-
0019302990
-
Sialic acid and microheterogeneity of human serum ferritin
-
S.J. Cragg M. Wagstaff M. Worwood Sialic acid and microheterogeneity of human serum ferritin Clin. Sci. 58 1980 259 262
-
(1980)
Clin. Sci.
, vol.58
, pp. 259-262
-
-
Cragg, S.J.1
Wagstaff, M.2
Worwood, M.3
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