-
1
-
-
0034999045
-
Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
-
AGUILAR-MARTÍNEZ, P., BISMUTH, M., PICOT, M.C., et al. (2001). Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut 48, 836-842.
-
(2001)
Gut
, vol.48
, pp. 836-842
-
-
Aguilar-Martínez, P.1
Bismuth, M.2
Picot, M.C.3
-
2
-
-
0038187588
-
Patients with biochemical iron overload: Causes and characteristics of a cohort of 150 cases
-
ALTÉS, A., REMACHA, F., SUREDA, A., et al. (2003). Patients with biochemical iron overload: causes and characteristics of a cohort of 150 cases. Ann. Hematol. 82, 127-130.
-
(2003)
Ann. Hematol.
, vol.82
, pp. 127-130
-
-
Altés, A.1
Remacha, F.2
Sureda, A.3
-
3
-
-
0031857140
-
Frequency of the HFE C282Y and H63D mutations in distinct ethnics groups living in Spain
-
BAIGET, M., BARCELO, M.J., and GIMFERRER, E. (1998). Frequency of the HFE C282Y and H63D mutations in distinct ethnics groups living in Spain. J. Med. Genet. 35, 701.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 701
-
-
Baiget, M.1
Barcelo, M.J.2
Gimferrer, E.3
-
4
-
-
0142156604
-
Screening for iron overload in the Turkish population
-
BARUT, G., BALCI, H., BOZDAYI, M., et al. (2003). Screening for iron overload in the Turkish population. Dig. Dis. 21, 279-285.
-
(2003)
Dig. Dis.
, vol.21
, pp. 279-285
-
-
Barut, G.1
Balci, H.2
Bozdayi, M.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.1
D'Ambrosio, L.2
Totaro, A.3
-
6
-
-
0035712326
-
Hfe gene mutations analysis in Basque hereditary haemochromatosis patients and controls
-
DE JUAN, M., RETA, A., CASTIELLA A., POZUETA, J., PRADA, A., and CUADRADO, E. (2001). Hfe gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Eur. J. Hum. Genet. 9, 961-964.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 961-964
-
-
De Juan, M.1
Reta, A.2
Castiella, A.3
Pozueta, J.4
Prada, A.5
Cuadrado, E.6
-
7
-
-
9344224529
-
A novel MHC class I-like is mutated in patients with hereditary hemochromatosis
-
FEDER, J.N., GNIRKE, A., THOMAS, W., et al. (1996). A novel MHC class I-like is mutated in patients with hereditary hemochromatosis. Nature Genet. 13, 399-408.
-
(1996)
Nature Genet.
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
8
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers the affinity for ligand binding
-
FEDER, J.N., PENNY, D.M., IRRINKI, A., et al. (1998). The hemochromatosis gene product complexes with the transferrin receptor and lowers the affinity for ligand binding. Proc. Natl. Acad. Sci. USA 95, 1472-1477.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 1472-1477
-
-
Feder, J.N.1
Penny, D.M.2
Irrinki, A.3
-
9
-
-
0036461408
-
Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)
-
GUIX, P., PICORNELL, A., PARERA, M., et al. (2002). Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain). Clin. Genet. 61, 43-48.
-
(2002)
Clin. Genet.
, vol.61
, pp. 43-48
-
-
Guix, P.1
Picornell, A.2
Parera, M.3
-
10
-
-
0032775931
-
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
-
JEFFREY, G.P., CHAKRABARTI, S., HEGELE, R.A., and ADAMS, P.C. (1999). Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nature Genet. 22, 325-326.
-
(1999)
Nature Genet.
, vol.22
, pp. 325-326
-
-
Jeffrey, G.P.1
Chakrabarti, S.2
Hegele, R.A.3
Adams, P.C.4
-
11
-
-
0034949432
-
Hereditary hemochromatosis since discovery of the HFE gene
-
LYON, E., and FRANK, E.L. (2001). Hereditary hemochromatosis since discovery of the HFE gene. Clin. Chem. 47, 1147-1156.
-
(2001)
Clin. Chem.
, vol.47
, pp. 1147-1156
-
-
Lyon, E.1
Frank, E.L.2
-
12
-
-
0031687548
-
Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?
-
MCNAMARA, L., MACPHAIL, A.P., GORDEUK, V.R., HASSTEDT, S.J., and ROUAULT, T. (1998). Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? Br. J. Haemat. 102, 1176-1178.
-
(1998)
Br. J. Haemat.
, vol.102
, pp. 1176-1178
-
-
Mcnamara, L.1
Macphail, A.P.2
Gordeuk, V.R.3
Hasstedt, S.J.4
Rouault, T.5
-
13
-
-
0030923653
-
Global Prevalence of putative haemochromatosis mutations
-
MERRYWEATHER-CLARKE, A.T., PINTON, S.S., SHEARMAN, J.D., and ROBSON, K.J.H. (1997). Global Prevalence of putative haemochromatosis mutations. J. Med. Genet. 34, 275-278.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pinton, S.S.2
Shearman, J.D.3
Robson, K.J.H.4
-
14
-
-
0033862319
-
Geography of HFE C282Y and H63D mutations
-
MERRYWEATHER-CLARKE, A.T., POINTON, J.J., JOUANOLLE, A.M., ROCHETTE, J., and ROBSON, K.J.H. (2000). Geography of HFE C282Y and H63D mutations. Genet. Test. 4, 183-198.
-
(2000)
Genet. Test.
, vol.4
, pp. 183-198
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Jouanolle, A.M.3
Rochette, J.4
Robson, K.J.H.5
-
15
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
MERRYWEATHER-CLARKE, A.T., CADET, E., BOMFORD, A., et al. (2003). Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 12, 2241-2247.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
-
16
-
-
0033561342
-
HFE mutation analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
-
MURA, C., RAGUÉNES, O., and FÉREC, C. (1999). HFE mutation analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93, 2502-2505.
-
(1999)
Blood
, vol.93
, pp. 2502-2505
-
-
Mura, C.1
Raguénes, O.2
Férec, C.3
-
17
-
-
0034083908
-
Relation between HFE mutation and mild iron-overload expression
-
MURA, C., LE GAC, G., RAGUÉNES, O., MERCIER, A.Y., LE GUEN, A., and FÉREC, C. (2000). Relation between HFE mutation and mild iron-overload expression. Mol. Genet. Metab. 69, 295-301.
-
(2000)
Mol. Genet. Metab.
, vol.69
, pp. 295-301
-
-
Mura, C.1
Le Gac, G.2
Raguénes, O.3
Mercier, A.Y.4
Le Guen, A.5
Férec, C.6
-
18
-
-
0037366790
-
A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism
-
NJAJOU, O.T., HOUWING-DUISTERMAAT, J.J., OSBORNE, R.H., et al. (2003). A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism. Eur. J. Hum. Genet. 11, 225-231.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 225-231
-
-
Njajou, O.T.1
Houwing-Duistermaat, J.J.2
Osborne, R.H.3
-
19
-
-
0037276539
-
Prevalence of Hemochromatosis gene (HFE) mutations in Greece
-
PAPAZOGLOU, D., EXIARA, T., SPELETAS, M., PANAGOPOULOS, I., and MALTEZOS, E. (2003). Prevalence of Hemochromatosis gene (HFE) mutations in Greece. Acta Haematol 109, 137-140.
-
(2003)
Acta Haematol.
, vol.109
, pp. 137-140
-
-
Papazoglou, D.1
Exiara, T.2
Speletas, M.3
Panagopoulos, I.4
Maltezos, E.5
-
20
-
-
17044442568
-
Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
-
SÁNCHEZ. M., BRUGUERA, M., BOSCH, J., RODÉS, J., BALLESTA, F., and OLIVA. R. (1998). Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J. Hepatol. 29, 725-728.
-
(1998)
J. Hepatol.
, vol.29
, pp. 725-728
-
-
Sánchez, M.1
Bruguera, M.2
Bosch, J.3
Rodés, J.4
Ballesta, F.5
Oliva, R.6
-
21
-
-
0345874508
-
Frequency and spectrum of hemochromatosis mutations in Tunissia
-
ZORAI, A., HARTEVELD, C., RACHDI, R., et al. (2003). Frequency and spectrum of hemochromatosis mutations in Tunissia. Hematol. J. 4, 433-435.
-
(2003)
Hematol. J.
, vol.4
, pp. 433-435
-
-
Zorai, A.1
Harteveld, C.2
Rachdi, R.3
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