-
1
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
ROETTO A, TOTARO A, PIPERNO A, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-2560.
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
-
2
-
-
0036242163
-
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
-
GIRELLI D, BOZZINI C, ROETTO A, et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002;122:1295-1302.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
-
3
-
-
0036683019
-
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
-
MATTMAN A, HUNTSMAN D, LOCKITCH G, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002;100:1075-1077.
-
(2002)
Blood
, vol.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
-
4
-
-
0033597780
-
Molecular cloning of transferrin receptor 2
-
KAWABATA H, YANG R, HIRAMA T, et al. Molecular cloning of transferrin receptor 2. J Biol Chem 1999;274:20826-20832.
-
(1999)
J Biol Chem
, vol.274
, pp. 20826-20832
-
-
Kawabata, H.1
Yang, R.2
Hirama, T.3
-
5
-
-
0029039362
-
Histological grading and staging of chronic hepatitis
-
ISHAK K, BAPTISTA A, BIANCHI L, et al. Histological grading and staging of chronic hepatitis. J Hepatol 1995;22: 696-699.
-
(1995)
J Hepatol
, vol.22
, pp. 696-699
-
-
Ishak, K.1
Baptista, A.2
Bianchi, L.3
-
6
-
-
0026601599
-
Liver pathology in genetic hemochromatosis: A review of 135 homozygous cases and their bioclinical correlations
-
DEUGNIER YM, LOREAL O, TURLIN BD, et al. Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 1992;102:2050-2059.
-
(1992)
Gastroenterology
, vol.102
, pp. 2050-2059
-
-
Deugnier, Y.M.1
Loreal, O.2
Turlin, B.D.3
-
7
-
-
0028044926
-
Determination of hepatic iron concentration in fresh and paraffin-embedded tissue: Diagnostic implications
-
OLYNIK J. O'NEILL R, BRITTON R, BACON B. Determination of hepatic iron concentration in fresh and paraffin-embedded tissue: diagnostic implications. Gastroenterology 1994;106:674-677.
-
(1994)
Gastroenterology
, vol.106
, pp. 674-677
-
-
Olynik, J.1
O'Neill, R.2
Britton, R.3
Bacon, B.4
-
8
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
PAPANICOLAU G, SAMUELS ME, LUDWIG EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nature Genet 2004;36: 77-82.
-
(2004)
Nature Genet
, vol.36
, pp. 77-82
-
-
Papanicolau, G.1
Samuels, M.E.2
Ludwig, E.H.3
-
10
-
-
0036075097
-
Natural history of juvenile haemochromatosis
-
DE GOBBI M, ROETTO A, PIPERNO A, MARIANI R, ALBERTI F, PAPANIKOLAOU G, et al. Natural history of juvenile haemochromatosis. Br J Haematol 2002;117:973-979.
-
(2002)
Br J Haematol
, vol.117
, pp. 973-979
-
-
De Gobbi, M.1
Roetto, A.2
Piperno, A.3
Mariani, R.4
Alberti, F.5
Papanikolaou, G.6
-
11
-
-
0026087634
-
Cardiac alterations in 36 consecutive patients with idiopathic hemochromatosis: Polygraphic and echocardiographic evaluation
-
CECCHETTI G, BINDA A, PIPERNO A, NADOR F, FARGION S, FIORELLI G. Cardiac alterations in 36 consecutive patients with idiopathic hemochromatosis: polygraphic and echocardiographic evaluation. Eur Heart J 1991;12: 224-230.
-
(1991)
Eur Heart J
, vol.12
, pp. 224-230
-
-
Cecchetti, G.1
Binda, A.2
Piperno, A.3
Nador, F.4
Fargion, S.5
Fiorelli, G.6
-
12
-
-
0005650185
-
Diabetes mellitus and hemochromatosis
-
Barton JC, Edwards CQ, eds. Cambrige. UK: Cambrige University Press
-
STROHMEYER G, NIEDERAU C. Diabetes mellitus and hemochromatosis. In: BARTON JC, EDWARDS CQ, eds. Hemochromatosis. Genetics, Pathophysiology, Diagnosis and Treatment. Cambrige. UK: Cambrige University Press, 2000:268-277.
-
(2000)
Hemochromatosis. Genetics, Pathophysiology, Diagnosis and Treatment
, pp. 268-277
-
-
Strohmeyer, G.1
Niederau, C.2
-
13
-
-
0347554010
-
Non diabetic endocrinopathy in hemochromatosis
-
Barton JC, Edwards CQ, eds. Cambrige, UK: Cambrige University Press
-
WALSH CH. Non diabetic endocrinopathy in hemochromatosis. In: BARTON JC, EDWARDS CQ, eds. Hemochromatosis. Genetics, pathophysiology, diagnosis and treatment. Cambrige, UK: Cambrige University Press, 2000:278-289.
-
(2000)
Hemochromatosis. Genetics, Pathophysiology, Diagnosis and Treatment
, pp. 278-289
-
-
Walsh, C.H.1
-
14
-
-
0036678091
-
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
-
FLEMING RE, AHMANN JR, MIGAS MC, et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. PNAS 2002;99:10653-10658.
-
(2002)
PNAS
, vol.99
, pp. 10653-10658
-
-
Fleming, R.E.1
Ahmann, J.R.2
Migas, M.C.3
-
15
-
-
0342439025
-
The diagnostic significance of bone marrow iron in hereditary hemochromatosis
-
Weintraub LR. Edwards CQ, Krikker M, eds. Hemochromatosis. Proceedings of the First International Conference
-
DULLMANN J, WULFHEKEL U. The diagnostic significance of bone marrow iron in hereditary hemochromatosis. In: WEINTRAUB LR. EDWARDS CQ, KRIKKER M, eds. Hemochromatosis. Proceedings of the First International Conference. Ann NY Acad Sci 1988;526:357-360.
-
(1988)
Ann NY Acad Sci
, vol.526
, pp. 357-360
-
-
Dullmann, J.1
Wulfhekel, U.2
-
16
-
-
0034493507
-
Haemochromatosis in patients with B-thalassemia trait
-
PIPERNO A, MARIANI R, AROSIO C, et al. Haemochromatosis in patients with B-thalassemia trait. Br J Haematol 2000;111:908-914.
-
(2000)
Br J Haematol
, vol.111
, pp. 908-914
-
-
Piperno, A.1
Mariani, R.2
Arosio, C.3
-
17
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
ROETTO A, PAPANIKOLAOU G, POLITOU M, ALBERTI F, GIRELLI D, CHRISTAKIS J, LOUKOPOULOS D, CAMASCHELLA C. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33: 21-22.
-
(2003)
Nat Genet
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
Alberti, F.4
Girelli, D.5
Christakis, J.6
Loukopoulos, D.7
Camaschella, C.8
-
18
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
NICOLAS G, BENNOUN M, DEVAUX I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 2001;98:8780-8785.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
-
19
-
-
0001376313
-
HFE gene knockout produces mouse model of hereditary hemochromatosis
-
ZHOU XY, TOMATSU S, FLEMING RE, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci USA 1998;95:2492-2497.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2492-2497
-
-
Zhou, X.Y.1
Tomatsu, S.2
Fleming, R.E.3
-
20
-
-
0037406254
-
Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferring receptor (TFR2) in intestinal tissue and cells
-
GRIFFITHS WJ, COX TM. Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferring receptor (TFR2) in intestinal tissue and cells. J Histochem Cytochem 2003;51:613-624.
-
(2003)
J Histochem Cytochem
, vol.51
, pp. 613-624
-
-
Griffiths, W.J.1
Cox, T.M.2
-
21
-
-
0037111572
-
Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and polyclonal antiserum
-
DEAGLIO S, CAPOBIANCO A, CALÌ A, et al. Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and polyclonal antiserum. Blood 2002;100:3782-3789.
-
(2002)
Blood
, vol.100
, pp. 3782-3789
-
-
Deaglio, S.1
Capobianco, A.2
Calì, A.3
-
22
-
-
0032427653
-
Kupffer cell staining by an HFE-specific monoclonal antibody: Implications for hereditary hemochromatosis
-
BASTIN JM, JONES M, O'CALLAGHAN CA, SHIMANSKI L, MASON DY, TOWNSEND AR. Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary hemochromatosis. Br J Haematol 1998;103:931-941.
-
(1998)
Br J Haematol
, vol.103
, pp. 931-941
-
-
Bastin, J.M.1
Jones, M.2
O'Callaghan, C.A.3
Shimanski, L.4
Mason, D.Y.5
Townsend, A.R.6
-
23
-
-
0842263988
-
Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes
-
ZHANG A-S, XIONG S, TSUKAMOTO H, ENNS CA. Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes. Blood 2004;103:1509-1514.
-
(2004)
Blood
, vol.103
, pp. 1509-1514
-
-
Zhang, A.-S.1
Xiong, S.2
Tsukamoto, H.3
Enns, C.A.4
-
24
-
-
1942445099
-
Homozygosity for transferrin receptor 2 Y250X mutation induces early iron overload
-
in press
-
PIPERNO A, ROETTO A, MARIANI R, PELUCCHI S, CORENGIA C, DARAIO F, et al. Homozygosity for transferrin receptor 2 Y250X mutation induces early iron overload. Haematologica 2004, (in press).
-
(2004)
Haematologica
-
-
Piperno, A.1
Roetto, A.2
Mariani, R.3
Pelucchi, S.4
Corengia, C.5
Daraio, F.6
-
25
-
-
0037564038
-
Expression of hepcidin in hereditary hemochromatosis: Evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron
-
GEHRKE SG, KULAKSIZ H, HERRMANN T, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron. Blood 2003;102:371-376.
-
(2003)
Blood
, vol.102
, pp. 371-376
-
-
Gehrke, S.G.1
Kulaksiz, H.2
Herrmann, T.3
|