-
1
-
-
2542560427
-
Hereditary hemochromatosis-a new look at an old disease
-
A. Pietrangelo Hereditary hemochromatosis-a new look at an old disease N. Engl. J. Med. 350 2004 2383 2397
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 2383-2397
-
-
Pietrangelo, A.1
-
2
-
-
0042793519
-
Penetrance of hemochromatosis
-
J. Waalen, V. Felitti, T. Gelbart, N.J. Ho, and E. Beutler Penetrance of hemochromatosis Blood Cells Mol. Diseases 29 2002 418 432
-
(2002)
Blood Cells Mol. Diseases
, vol.29
, pp. 418-432
-
-
Waalen, J.1
Felitti, V.2
Gelbart, T.3
Ho, N.J.4
Beutler, E.5
-
3
-
-
0346553006
-
Clinical haemochromatosis in HFE mutation carriers
-
T. Cox, J. Rochette, C. Camaschella, A. Walker, and K. Robson Clinical haemochromatosis in HFE mutation carriers Lancet 360 2002 412
-
(2002)
Lancet
, vol.360
, pp. 412
-
-
Cox, T.1
Rochette, J.2
Camaschella, C.3
Walker, A.4
Robson, K.5
-
5
-
-
0037007064
-
Severe iron deficiency anemia in transgenic mice expressing liver hepcidin
-
G. Nicolas, M. Bennoun, A. Porteu, S. Mativet, C. Beaumont, B. Grandchamp, M. Sirito, M. Sawadogo, A. Kahn, and S. Vaulon Severe iron deficiency anemia in transgenic mice expressing liver hepcidin Proc. Natl. Acad. Sci. U. S. A. 99 2002 4596 4601
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 4596-4601
-
-
Nicolas, G.1
Bennoun, M.2
Porteu, A.3
Mativet, S.4
Beaumont, C.5
Grandchamp, B.6
Sirito, M.7
Sawadogo, M.8
Kahn, A.9
Vaulon, S.10
-
6
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
G. Nicolas, M. Bennoun, I. Devaux, C. Beaumont, B. Grandchamp, A. Kahn, and S. Vaulont Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice Proc. Natl. Acad. Sci. U. S. A. 98 2001 8780 8785
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
Beaumont, C.4
Grandchamp, B.5
Kahn, A.6
Vaulont, S.7
-
7
-
-
0037460697
-
Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis
-
K.R. Bridle, D.M. Frazer, S.J. Wilkins, J.L. Dixon, D.M. Purdie, D.H. Crawford, V.N. Subramaniam, L.W. Powell, G.J. Anderson, and G.A. Ramm Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis Lancet 361 2003 669 673
-
(2003)
Lancet
, vol.361
, pp. 669-673
-
-
Bridle, K.R.1
Frazer, D.M.2
Wilkins, S.J.3
Dixon, J.L.4
Purdie, D.M.5
Crawford, D.H.6
Subramaniam, V.N.7
Powell, L.W.8
Anderson, G.J.9
Ramm, G.A.10
-
8
-
-
0037509928
-
Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis
-
M. Muckenthaler, C.N. Roy, A.O. Custodio, B. Minana, J. deGraaf, L.K. Montross, N.C. Andrews, and M.W. Hentze Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis Nat. Genet. 34 2003 102 107
-
(2003)
Nat. Genet.
, vol.34
, pp. 102-107
-
-
Muckenthaler, M.1
Roy, C.N.2
Custodio, A.O.3
Minana, B.4
Degraaf, J.5
Montross, L.K.6
Andrews, N.C.7
Hentze, M.W.8
-
9
-
-
0037847496
-
Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis
-
G. Nicolas, L. Viatte, D.Q. Lou, M. Bennoun, C. Beaumont, A. Kahn, N.C. Andrews, and S. Vaulont Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis Nat. Genet. 34 2003 97 101
-
(2003)
Nat. Genet.
, vol.34
, pp. 97-101
-
-
Nicolas, G.1
Viatte, L.2
Lou, D.Q.3
Bennoun, M.4
Beaumont, C.5
Kahn, A.6
Andrews, N.C.7
Vaulont, S.8
-
10
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
G. Papanikolaou, M.E. Samuels, E.H. Ludwig, M.L. MacDonald, P.L. Franchini, M.P. Dube, L. Andres, J. MacFarlane, N. Sakellaropoulos, M. Politou, E. Nemeth, J. Thompson, J.K. Risler, C. Zaborowska, R. Babakaiff, C.C. Radomski, T.D. Pape, O. Davidas, J. Christakis, P. Brissot, G. Lockitch, T. Ganz, M.R. Hayden, and Y.P. Goldberg Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis Nat. Genet. 36 2004 77 82
-
(2004)
Nat. Genet.
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
MacDonald, M.L.4
Franchini, P.L.5
Dube, M.P.6
Andres, L.7
MacFarlane, J.8
Sakellaropoulos, N.9
Politou, M.10
Nemeth, E.11
Thompson, J.12
Risler, J.K.13
Zaborowska, C.14
Babakaiff, R.15
Radomski, C.C.16
Pape, T.D.17
Davidas, O.18
Christakis, J.19
Brissot, P.20
Lockitch, G.21
Ganz, T.22
Hayden, M.R.23
Goldberg, Y.P.24
more..
-
11
-
-
2542468736
-
The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
-
C. Lanzara, A. Roetto, F. Daraio, S. Rivard, R. Ficarella, H. Simard, T. Cox, M. Cazzola, A. Piperno, A.P. Gimenez-Roqueplo, P. Grammatico, S. Volinia, P. Gasparini, and C. Camaschella The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis Blood 103 2004 4317 4321
-
(2004)
Blood
, vol.103
, pp. 4317-4321
-
-
Lanzara, C.1
Roetto, A.2
Daraio, F.3
Rivard, S.4
Ficarella, R.5
Simard, H.6
Cox, T.7
Cazzola, M.8
Piperno, A.9
Gimenez-Roqueplo, A.P.10
Grammatico, P.11
Volinia, S.12
Gasparini, P.13
Camaschella, C.14
-
12
-
-
2442715055
-
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
-
M.B. Delatycki, K.J. Allen, P. Gow, J. MacFarlane, C. Radomski, J. Thompson, M.R. Hayden, Y.P. Goldberg, and M.E. Samuels A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis Clin. Genet. 65 2004 378 383
-
(2004)
Clin. Genet.
, vol.65
, pp. 378-383
-
-
Delatycki, M.B.1
Allen, K.J.2
Gow, P.3
MacFarlane, J.4
Radomski, C.5
Thompson, J.6
Hayden, M.R.7
Goldberg, Y.P.8
Samuels, M.E.9
-
13
-
-
2342656510
-
HAMP gene mutation c.208T > C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis
-
S. Majore, F. Binni, A. Pennese, A. De Santis, A. Crisi, and P. Grammatico HAMP gene mutation c.208T > C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis Hum. Mutat. 23 2004 400
-
(2004)
Hum. Mutat.
, vol.23
, pp. 400
-
-
Majore, S.1
Binni, F.2
Pennese, A.3
De Santis, A.4
Crisi, A.5
Grammatico, P.6
-
14
-
-
1542283709
-
Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)
-
A. Roetto, F. Daraio, P. Porporato, R. Caruso, T.M. Cox, M. Cazzola, P. Gasparini, A. Piperno, and C. Camaschella Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R) Blood 103 2004 2407 2409
-
(2004)
Blood
, vol.103
, pp. 2407-2409
-
-
Roetto, A.1
Daraio, F.2
Porporato, P.3
Caruso, R.4
Cox, T.M.5
Cazzola, M.6
Gasparini, P.7
Piperno, A.8
Camaschella, C.9
-
16
-
-
2942619988
-
Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
-
P.L. Lee, E. Beutler, S.V. Rao, and J.C. Barton Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin Blood 103 2004 4669 4671
-
(2004)
Blood
, vol.103
, pp. 4669-4671
-
-
Lee, P.L.1
Beutler, E.2
Rao, S.V.3
Barton, J.C.4
-
17
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
A.T. Merryweather-Clarke, E. Cadet, A. Bomford, D. Capron, V. Viprakasit, A. Miller, P.J. McHugh, R.W. Chapman, J.J. Pointon, V.L. Wimhurst, K.J. Livesey, V. Tanphaichitr, J. Rochette, and K.J. Robson Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis Hum. Mol. Genet. 12 2003 2241 2247
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
Capron, D.4
Viprakasit, V.5
Miller, A.6
McHugh, P.J.7
Chapman, R.W.8
Pointon, J.J.9
Wimhurst, V.L.10
Livesey, K.J.11
Tanphaichitr, V.12
Rochette, J.13
Robson, K.J.14
-
18
-
-
1642367900
-
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
-
S. Jacolot, G. Le Gac, V. Scotet, I. Quere, C. Mura, and C. Ferec HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Blood 103 2004 2835 2840
-
(2004)
Blood
, vol.103
, pp. 2835-2840
-
-
Jacolot, S.1
Le Gac, G.2
Scotet, V.3
Quere, I.4
Mura, C.5
Ferec, C.6
-
19
-
-
4544314123
-
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
-
G. Le Gac, V. Scotet, C. Ka, I. Gourlaouen, L. Bryckaert, S. Jacolot, C. Mura, and C. Ferec The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Hum. Mol. Genet. 13 2004 1913 1918
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1913-1918
-
-
Le Gac, G.1
Scotet, V.2
Ka, C.3
Gourlaouen, I.4
Bryckaert, L.5
Jacolot, S.6
Mura, C.7
Ferec, C.8
-
20
-
-
0344514886
-
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
-
G. Biasiotto, S. Belloli, G. Ruggeri, I. Zanella, G. Gerardi, M. Corrado, E. Gobbi, A. Albertini, and P. Arosio Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload Clin. Chem. 49 2003 1981 1988
-
(2003)
Clin. Chem.
, vol.49
, pp. 1981-1988
-
-
Biasiotto, G.1
Belloli, S.2
Ruggeri, G.3
Zanella, I.4
Gerardi, G.5
Corrado, M.6
Gobbi, E.7
Albertini, A.8
Arosio, P.9
-
21
-
-
0020465049
-
Magnetic-susceptibility measurement of human iron stores
-
G.M. Brittenham, D.E. Farrell, J.W. Harris, E.S. Feldman, E.H. Danish, W.A. Muir, J.H. Tripp, and E.M. Bellon Magnetic-susceptibility measurement of human iron stores N. Engl. J. Med. 307 1982 1671 1675
-
(1982)
N. Engl. J. Med.
, vol.307
, pp. 1671-1675
-
-
Brittenham, G.M.1
Farrell, D.E.2
Harris, J.W.3
Feldman, E.S.4
Danish, E.H.5
Muir, W.A.6
Tripp, J.H.7
Bellon, E.M.8
-
22
-
-
0034999807
-
Denaturing high-performance liquid chromatography: A review
-
W. Xiao, and P.J. Oefner Denaturing high-performance liquid chromatography: a review Hum. Mutat. 17 2001 439 474
-
(2001)
Hum. Mutat.
, vol.17
, pp. 439-474
-
-
Xiao, W.1
Oefner, P.J.2
-
23
-
-
0036683019
-
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
-
A. Mattman, D. Huntsman, G. Lockitch, S. Langlois, N. Buskard, D. Ralston, Y. Butterfield, P. Rodrigues, S. Jones, G. Porto, M. Marra, M. De Sousa, and G. Vatcher Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation Blood 100 2002 1075 1077
-
(2002)
Blood
, vol.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
Langlois, S.4
Buskard, N.5
Ralston, D.6
Butterfield, Y.7
Rodrigues, P.8
Jones, S.9
Porto, G.10
Marra, M.11
De Sousa, M.12
Vatcher, G.13
-
24
-
-
0035049344
-
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
-
P.L. Lee, C. Halloran, C. West, and E. Beutler Mutation analysis of the transferrin receptor-2 gene in patients with iron overload Blood Cells Mol. Diseases 27 2001 285 289
-
(2001)
Blood Cells Mol. Diseases
, vol.27
, pp. 285-289
-
-
Lee, P.L.1
Halloran, C.2
West, C.3
Beutler, E.4
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