-
1
-
-
0023901798
-
Prevalence of hemochromatosis among 11.065 presumably healthy blood donors
-
Edwards, C. Q., Griffen, L. M., Goldgar, D., et al. (1988) Prevalence of hemochromatosis among 11.065 presumably healthy blood donors. N. Engl. J. Med. 318, 1355-1362.
-
(1988)
N. Engl. J. Med.
, vol.318
, pp. 1355-1362
-
-
Edwards, C.Q.1
Griffen, L.M.2
Goldgar, D.3
-
2
-
-
0018666621
-
Hereditary hemochromatosis: Phenotypic expression of the disease
-
Cartwright, G. E., Edwards, C. Q., Kravitz, K., et al. (1979) Hereditary hemochromatosis: Phenotypic expression of the disease. N. Engl. J. Med. 301, 175-179.
-
(1979)
N. Engl. J. Med.
, vol.301
, pp. 175-179
-
-
Cartwright, G.E.1
Edwards, C.Q.2
Kravitz, K.3
-
3
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder, J. N., Gbujre, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13, 399-408.
-
(1996)
Nat. Genet.
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gbujre, A.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
-
4
-
-
0030221927
-
Mutation analysis in hereditary hemochromatosis
-
Beutler, E., Gelbart, T., West, C., et al. (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis. 22, 187-194.
-
(1996)
Blood Cells Mol. Dis.
, vol.22
, pp. 187-194
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
-
5
-
-
16944363480
-
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
-
Carella, M. D., Ambrosio, L., Totaro, A., et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet. 60, 828-832.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 828-832
-
-
Carella, M.D.1
Ambrosio, L.2
Totaro, A.3
-
6
-
-
0031957721
-
Heterogeneity of hemochromatosis in Italy
-
Piperno, A., Sampietro, M., Pietrangelo, A., et al. (1998) Heterogeneity of hemochromatosis in Italy. Gastroenterology 114, 996-1002
-
(1998)
Gastroenterology
, vol.114
, pp. 996-1002
-
-
Piperno, A.1
Sampietro, M.2
Pietrangelo, A.3
-
7
-
-
0033859043
-
Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity
-
Papanikolaou, G., Politou, M., Terpos, E., Fourlemadis, S., Sakellaropoulos, N., and Loukopoulos, D. (2000) Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis. 26, 163-168.
-
(2000)
Blood Cells Mol. Dis.
, vol.26
, pp. 163-168
-
-
Papanikolaou, G.1
Politou, M.2
Terpos, E.3
Fourlemadis, S.4
Sakellaropoulos, N.5
Loukopoulos, D.6
-
8
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella, C., Roetto, A., Cali, A., et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat. Genet. 25, 14-15.
-
(2000)
Nat. Genet.
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Cali, A.3
-
9
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto, A., Totaro, A., Piperno, A., et al. (2001) New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 97, 2555-2560.
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
-
10
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi, G., Donovan, A., Totaro, A., et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J. Clin. Invest. 108, 619-623.
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
-
11
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou, O. T., Vaessen, N., Joosse, M., et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat. Genet. 28, 213-214.
-
(2001)
Nat. Genet.
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
-
12
-
-
0033358675
-
Juvenile hemochromatosis locus maps to chromosome 1q
-
Roetto, A., Totaro, A., Cazzola, M., et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q. Am. J. Hum. Genet. 64, 1388-1393.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1388-1393
-
-
Roetto, A.1
Totaro, A.2
Cazzola, M.3
-
13
-
-
0034749597
-
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
-
Papanikolaou, G., Politou, M., Roetto, A., et al, (2001) Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 27, 744-749.
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 744-749
-
-
Papanikolaou, G.1
Politou, M.2
Roetto, A.3
-
14
-
-
0036075097
-
Natural history of juvenile hemochromatosis
-
De Gobbi, M., Roetto, A., Piperno, A., et al. (2002) Natural history of juvenile hemochromatosis. Br. J. Haematol. 117, 973-979.
-
(2002)
Br. J. Haematol.
, vol.117
, pp. 973-979
-
-
De Gobbi, M.1
Roetto, A.2
Piperno, A.3
-
15
-
-
0021014865
-
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting a hypogonadotropic hypogonadism
-
Cazzola, M., Ascari, E., Barosi Gclaudiani, G., et al. (1983) Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting a hypogonadotropic hypogonadism. Hum. Genet. 65, 149-154.
-
(1983)
Hum. Genet.
, vol.65
, pp. 149-154
-
-
Cazzola, M.1
Ascari, E.2
Barosi Gclaudiani, G.3
-
16
-
-
0036242163
-
Clinical and histopatological findings in a family with hemochromatosis type 3, carrying a new mutation in transferrin receptor 2 gene
-
Girelli, D., Bozzini, C., Roetto, A., et al. (2002) Clinical and histopatological findings in a family with hemochromatosis type 3, carrying a new mutation in transferrin receptor 2 gene. Gastroenterology 122, 1295-1302.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
-
17
-
-
0011045910
-
Juvenile hemochromatosis affecting two sisters in a Greek family. Laboratory and genetic data
-
Christakis, J. I., Kioumi, A., Papaioannou, M., et al. (2000) Juvenile hemochromatosis affecting two sisters in a Greek family. Laboratory and genetic data. Hematol. June, 43.
-
(2000)
Hematol.
, vol.JUNE
, pp. 43
-
-
Christakis, J.I.1
Kioumi, A.2
Papaioannou, M.3
-
18
-
-
0034883373
-
Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function gain in understanding
-
Fleming, R. E., and Sly, W. S. (2001) Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function gain in understanding. J. Clin. Invest. 108, 521-522.
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 521-522
-
-
Fleming, R.E.1
Sly, W.S.2
-
19
-
-
0033862920
-
Uncommon mutations and polymorphisms in the hemochromatosis gene
-
Pointon, J. J., Wallace, D., Marryweather-Clarke, A. T., and Robson, K. J. H. (2000) Uncommon mutations and polymorphisms in the hemochromatosis gene. Genet. Test. 4, 151-161.
-
(2000)
Genet. Test.
, vol.4
, pp. 151-161
-
-
Pointon, J.J.1
Wallace, D.2
Marryweather-Clarke, A.T.3
Robson, K.J.H.4
-
20
-
-
0029670047
-
β2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism
-
Rothenberg, B. E., and Voland, J. R. (1996) 32 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc. Natl. Acad. Sci. USA 93, 1529-1534.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 1529-1534
-
-
Rothenberg, B.E.1
Voland, J.R.2
-
21
-
-
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., Beaumont, C., Grandchamp, B., Kahn, A., and Vaulont, S. (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc. Natl. Acad. Sci. USA 98, 8780-8755.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 8780-8755
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
Beaumont, C.4
Grandchamp, B.5
Kahn, A.6
Vaulont, S.7
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