-
1
-
-
2542560427
-
Hereditary hemochromatosis - A new look at an old disease
-
DOI 10.1056/NEJMra031573
-
Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 2004;350:2383-2397. (Pubitemid 38702849)
-
(2004)
New England Journal of Medicine
, vol.350
, Issue.23
-
-
Pietrangelo, A.1
-
2
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
DOI 10.1038/ng0896-399
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408. (Pubitemid 26256612)
-
(1996)
Nature Genetics
, vol.13
, Issue.4
, 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 Jr., 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
Quintana, L.26
Starnes, S.M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
3
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221-230.
-
(2008)
N Engl J Med
, vol.358
, pp. 221-230
-
-
Allen, K.J.1
Gurrin, L.C.2
Constantine, C.C.3
Osborne, N.J.4
Delatycki, M.B.5
Nicoll, A.J.6
-
4
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
DOI 10.1056/NEJMoa041534
-
Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1778. (Pubitemid 40570925)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.17
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
McLaren, C.E.4
Eckfeldt, J.H.5
McLaren, G.D.6
Dawkins, F.W.7
Acton, R.T.8
Harris, E.L.9
Gordeuk, V.R.10
Leiendecker-Foster, C.11
Speechley, M.12
Snively, B.M.13
Holup, J.L.14
Thomson, E.15
Sholinsky, P.16
-
5
-
-
0037081742
-
Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients
-
Girouard J, Giguere Y, Delage R, Rousseau F. Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients. Hum Mol Genet 2002;11:185-189. (Pubitemid 34157010)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.2
, pp. 185-189
-
-
Girouard, J.1
Giguere, Y.2
Delage, R.3
Rousseau, F.4
-
7
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
DOI 10.1056/NEJM199909023411002
-
Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718-724. (Pubitemid 29407371)
-
(1999)
New England Journal of Medicine
, vol.341
, Issue.10
, pp. 718-724
-
-
Olynyk, J.K.1
Cullen, D.J.2
Aquilia, S.3
Rossi, E.4
Summerville, L.5
Powell, L.W.6
-
8
-
-
0033973825
-
Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women
-
Rossi E, Olynyk JK, Cullen DJ, Papadopoulos G, Bulsara M, Summerville L, et al. Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women. Clin Chem 2000;46:162-166. (Pubitemid 30104238)
-
(2000)
Clinical Chemistry
, vol.46
, Issue.2
, pp. 162-166
-
-
Rossi, E.1
Olynyk, J.K.2
Cullen, D.J.3
Papadopoulos, G.4
Bulsara, M.5
Summerville, L.6
Powell, L.W.7
-
9
-
-
0037132786
-
Penetrance of 845G-> a (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-218.
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
10
-
-
34547185474
-
Iron storage disease: Facts, fiction and progress
-
DOI 10.1016/j.bcmd.2007.03.009, PII S1079979607000794
-
Beutler E. Iron storage disease: facts, fiction and progress. Blood Cells Mol Dis 2007;39:140-147. (Pubitemid 47126927)
-
(2007)
Blood Cells, Molecules, and Diseases
, vol.39
, Issue.2
, pp. 140-147
-
-
Beutler, E.1
-
11
-
-
32644445055
-
Screening for hemochromatosis in asymptomatic subjects with or without a family history
-
Powell LW, Dixon JL, Ramm GA, Purdie DM, Lincoln DJ, Anderson GJ, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med 2006;166:294-301.
-
(2006)
Arch Intern Med
, vol.166
, pp. 294-301
-
-
Powell, L.W.1
Dixon, J.L.2
Ramm, G.A.3
Purdie, D.M.4
Lincoln, D.J.5
Anderson, G.J.6
-
12
-
-
18544376989
-
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: A study of 9396 French people
-
DOI 10.1046/j.1365-2141.2002.03718.x
-
Deugnier Y, Jouanolle AM, Chaperon J, Moirand R, Pithois C, Meyer JF, et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br J Haematol 2002;118:1170-1178. (Pubitemid 35025987)
-
(2002)
British Journal of Haematology
, vol.118
, Issue.4
, pp. 1170-1178
-
-
Deugnier, Y.1
Jouanolle, A.-M.2
Chaperon, J.3
Moirand, R.4
Pithois, C.5
Meyer, J.-F.6
Pouchard, M.7
Lafraise, B.8
Brigand, A.9
Caserio-Schoenemann, C.10
Mosser, J.11
Adams, P.12
Le Gall, J.-Y.13
David, V.14
-
13
-
-
0033564146
-
HFE genotype in patients with hemochromatosis and other liver diseases
-
Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999;130:953-962.
-
(1999)
Ann Intern Med
, vol.130
, pp. 953-962
-
-
Bacon, B.R.1
Olynyk, J.K.2
Brunt, E.M.3
Britton, R.S.4
Wolff, R.K.5
-
14
-
-
33750819627
-
The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis
-
DOI 10.1016/j.cgh.2006.07.009, PII S1542356506007208
-
Walsh A, Dixon JL, Ramm GA, Hewett DG, Lincoln DJ, Anderson GJ, et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin Gastroenterol Hepatol 2006;4:1403-1410. (Pubitemid 44716739)
-
(2006)
Clinical Gastroenterology and Hepatology
, vol.4
, Issue.11
, pp. 1403-1410
-
-
Walsh, A.1
Dixon, J.L.2
Ramm, G.A.3
Hewett, D.G.4
Lincoln, D.J.5
Anderson, G.J.6
Subramaniam, V.N.7
Dodemaide, J.8
Cavanaugh, J.A.9
Bassett, M.L.10
Powell, L.W.11
-
15
-
-
84872257720
-
The Melbourne Collaborative Cohort Study
-
Giles GG, English DR. The Melbourne Collaborative Cohort Study. IARC Sci Publ 2002;156:69-70.
-
(2002)
IARC Sci Publ
, vol.156
, pp. 69-70
-
-
Giles, G.G.1
English, D.R.2
-
16
-
-
0035038147
-
Diagnosis and management of hemochromatosis
-
Tavill AS. Diagnosis and management of hemochromatosis. HEPATOLOGY 2001;33:1321-1328.
-
(2001)
Hepatology
, vol.33
, pp. 1321-1328
-
-
Tavill, A.S.1
-
17
-
-
0033848697
-
EASL International Consensus Conference on Haemochromatosis
-
Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.
-
(2000)
J Hepatol
, vol.33
, pp. 485-504
-
-
Adams, P.1
Brissot, P.2
Powell, L.W.3
|