-
1
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996 13 : 399 408.
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
2
-
-
2542560427
-
Hereditary hemochromatosis - A new look at an old disease
-
Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 2004 350 : 2383 97.
-
(2004)
N Engl J Med
, vol.350
, pp. 2383-97
-
-
Pietrangelo, A.1
-
3
-
-
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 8.
-
(2002)
Lancet
, vol.359
, pp. 211-8
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
4
-
-
20244372858
-
Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochromatosis and iron-overload screening in a racially diverse population
-
Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005 352 : 1769 78.
-
(2005)
N Engl J Med
, vol.352
, pp. 1769-78
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
5
-
-
15844397210
-
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
-
Piperno A, Arosio C, Fargion S, et al. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 1996 24 : 43 6.
-
(1996)
Hepatology
, vol.24
, pp. 43-6
-
-
Piperno, A.1
Arosio, C.2
Fargion, S.3
-
6
-
-
0030394593
-
Hemochromatosis: Association of severity of iron overload with genetic markers
-
Barton JC, Harmon L, Rivers C, Acton RT. Hemochromatosis: association of severity of iron overload with genetic markers. Blood Cells Mol Dis 1996 22 : 195 204.
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 195-204
-
-
Barton, J.C.1
Harmon, L.2
Rivers, C.3
Acton, R.T.4
-
7
-
-
0030884018
-
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
-
Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet 1997 34 : 761 4.
-
(1997)
J Med Genet
, vol.34
, pp. 761-4
-
-
Rhodes, D.A.1
Raha-Chowdhury, R.2
Cox, T.M.3
Trowsdale, J.4
-
8
-
-
0032992157
-
Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression
-
Pratiwi R, Fletcher LM, Pyper WR, Do KA, Crawford DH, Powell LW, Jazwinska EC. Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression. J Hepatol 1999 31 : 39 46.
-
(1999)
J Hepatol
, vol.31
, pp. 39-46
-
-
Pratiwi, R.1
Fletcher, L.M.2
Pyper, W.R.3
Do, K.A.4
Crawford, D.H.5
Powell, L.W.6
Jazwinska, E.C.7
-
9
-
-
4544255777
-
The origin and spread of the HFE-C282Y haemochromatosis mutation
-
Distante S, Robson KJ, Graham-Campbell J, Arnaiz- Villena A, Brissot P, Worwood M. The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet 2004 115 : 269 79.
-
(2004)
Hum Genet
, vol.115
, pp. 269-79
-
-
Distante, S.1
Robson, K.J.2
Graham-Campbell, J.3
Arnaiz- Villena, A.4
Brissot, P.5
Worwood, M.6
-
10
-
-
0034966139
-
Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the mhc region
-
Sachot S, Moirand R, Jouanolle AM, Mosser J, Fergelot P, Deugnier Y, Brissot P, Le Gall JY, David V. Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the mhc region. Blood Cells Mol Dis 2001 27 : 518 29.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 518-29
-
-
Sachot, S.1
Moirand, R.2
Jouanolle, A.M.3
Mosser, J.4
Fergelot, P.5
Deugnier, Y.6
Brissot, P.7
Le Gall, J.Y.8
David, V.9
-
11
-
-
11144254037
-
HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: Frequency disparity in men and women and lack of association with severity of iron overload
-
Barton JC, Wiener HW, Acton RT, Go RC. HLA haplotype A*03- B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis 2005a 34 : 38 47.
-
(2005)
Blood Cells Mol Dis
, vol.34
, pp. 38-47
-
-
Barton, J.C.1
Wiener, H.W.2
Acton, R.T.3
Go, R.C.4
-
12
-
-
17944383057
-
Clinical and genetic heterogeneity in hereditary haemochromatosis: Association between lymphocyte counts and expression of iron overload
-
Porto G, Cardoso CS, Gordeuk V, et al. Clinical and genetic heterogeneity in hereditary haemochromatosis: association between lymphocyte counts and expression of iron overload. Eur J Haematol 2001 67 : 110 8.
-
(2001)
Eur J Haematol
, vol.67
, pp. 110-8
-
-
Porto, G.1
Cardoso, C.S.2
Gordeuk, V.3
-
13
-
-
33645218398
-
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: Relationship to the genetic control of CD8 + T-lymphocyte numbers and severity of iron overload
-
Cruz E, Vieira J, Almeida S, Lacerda R, Gartner A, Cardoso CS, Alves H, Porto G. A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8 + T-lymphocyte numbers and severity of iron overload. BMC Med Genet. 2006 7 : 16.
-
(2006)
BMC Med Genet.
, vol.7
, pp. 16
-
-
Cruz, E.1
Vieira, J.2
Almeida, S.3
Lacerda, R.4
Gartner, A.5
Cardoso, C.S.6
Alves, H.7
Porto, G.8
-
14
-
-
27544469429
-
Total blood lymphocyte counts in hemochromatosis probands with HFE C282Y homozygosity: Relationship to severity of iron overload and HLA-A and -B alleles and haplotypes
-
Barton JC, Wiener HW, Acton RT, Go RC. Total blood lymphocyte counts in hemochromatosis probands with HFE C282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes. BMC Blood Disord. 2005b 5 : 5.
-
(2005)
BMC Blood Disord.
, vol.5
, pp. 5
-
-
Barton, J.C.1
Wiener, H.W.2
Acton, R.T.3
Go, R.C.4
-
15
-
-
0030716298
-
The HLA A1-B8 haplotype extends 6 Mb beyond HLA-A: Associations between HLA-A, B, F and 15 microsatellite markers
-
Worwood M, Raha CR, Robson KJ, Pointon J, Shearman JD, Darke C. The HLA A1-B8 haplotype extends 6 Mb beyond HLA-A: associations between HLA-A, B, F and 15 microsatellite markers. Tissue Antigens 1997 50 : 521 6.
-
(1997)
Tissue Antigens
, vol.50
, pp. 521-6
-
-
Worwood, M.1
Raha, C.R.2
Robson, K.J.3
Pointon, J.4
Shearman, J.D.5
Darke, C.6
-
16
-
-
0346603157
-
Localization, allelic heterogeneity, and origins of the hemochromatosis gene
-
In: Barton, J., Edwards, C.Q., eds. Cambridge, UK: Cambridge University Press
-
Raha-Chowdhury R, Gruen JR. Localization, allelic heterogeneity, and origins of the hemochromatosis gene. In : Barton J, Edwards CQ, eds. Hemochromatosis. Cambridge, UK : Cambridge University Press, 2000 : 75 90.
-
(2000)
Hemochromatosis.
, pp. 75-90
-
-
Raha-Chowdhury, R.1
Gruen, J.R.2
-
17
-
-
0021741754
-
HLA as a marker of the hemochromatosis gene in Sweden
-
Ritter B, Safwenberg J, Olsson KS. HLA as a marker of the hemochromatosis gene in Sweden. Hum Genet 1984 68 : 62 6.
-
(1984)
Hum Genet
, vol.68
, pp. 62-6
-
-
Ritter, B.1
Safwenberg, J.2
Olsson, K.S.3
-
18
-
-
0020661657
-
Prevalence of iron overload in central Sweden
-
Olsson KS, Ritter B, Rosen U, Heedman PA, Staugard F. Prevalence of iron overload in central Sweden. Acta Med Scand 1983 213 : 145 50.
-
(1983)
Acta Med Scand
, vol.213
, pp. 145-50
-
-
Olsson, K.S.1
Ritter, B.2
Rosen, U.3
Heedman, P.A.4
Staugard, F.5
-
19
-
-
35048895771
-
Hereditary hypochromic anemia
-
Lundholm I. Hereditary hypochromic anemia. Acta Med Scand 1939 suppl 102).
-
(1939)
Acta Med Scand
, Issue.102
-
-
Lundholm, I.1
-
20
-
-
0021951215
-
Liver affection in iron overload studied with serum ferritin and serum aminotransferases
-
Olsson KS, Ritter B, Lundin PM. Liver affection in iron overload studied with serum ferritin and serum aminotransferases. Acta Med Scand 1985 217 : 79 84.
-
(1985)
Acta Med Scand
, vol.217
, pp. 79-84
-
-
Olsson, K.S.1
Ritter, B.2
Lundin, P.M.3
-
21
-
-
0028904248
-
Iron deficiency and iron overload in Swedish male adolescents
-
Olsson KS, Marsell R, Ritter B, Olander B, Akerblom A, Ostergård H, Larsson O. Iron deficiency and iron overload in Swedish male adolescents. J Intern Med 1995 237 : 187 94.
-
(1995)
J Intern Med
, vol.237
, pp. 187-94
-
-
Olsson, K.S.1
Marsell, R.2
Ritter, B.3
Olander, B.4
Akerblom, A.5
Ostergård, H.6
Larsson, O.7
-
23
-
-
0022972673
-
HLA class I and II typing using cells positively selected from blood by immunomagnetic isolation - A fast and reliable technique
-
Vartdal F, Gaudernack G, Funderud S, Bratlie A, Lea T, Ugelstad J, Thorsby E. HLA class I and II typing using cells positively selected from blood by immunomagnetic isolation - a fast and reliable technique. Tissue Antigens. 1986 28 : 301 12.
-
(1986)
Tissue Antigens.
, vol.28
, pp. 301-12
-
-
Vartdal, F.1
Gaudernack, G.2
Funderud, S.3
Bratlie, A.4
Lea, T.5
Ugelstad, J.6
Thorsby, E.7
-
25
-
-
0038542813
-
The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
-
Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 2003 101 : 3347 50.
-
(2003)
Blood
, vol.101
, pp. 3347-50
-
-
Beutler, E.1
-
26
-
-
17744371115
-
The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects
-
Bell H, Berg JP, Undlien DE, et al. The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects. Scand J Gastroenterol 2000 35 : 1301 720.
-
(2000)
Scand J Gastroenterol
, vol.35
, pp. 1301-720
-
-
Bell, H.1
Berg, J.P.2
Undlien, D.E.3
-
27
-
-
0019914953
-
Iron overload in hereditary spherocytosis:association with HLA-linked hemochromatosis
-
Edwards CQ, Skolnick MH, Dadone MM, Kushner JP. Iron overload in hereditary spherocytosis:association with HLA-linked hemochromatosis. Am J Hematol 1982 13 : 101 9.
-
(1982)
Am J Hematol
, vol.13
, pp. 101-9
-
-
Edwards, C.Q.1
Skolnick, M.H.2
Dadone, M.M.3
Kushner, J.P.4
-
29
-
-
2442677652
-
Genetic signatures of strong recent positive selection at the lactase gene
-
Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 2004 74 : 1111 20.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1111-20
-
-
Bersaglieri, T.1
Sabeti, P.C.2
Patterson, N.3
Vanderploeg, T.4
Schaffner, S.F.5
Drake, J.A.6
Rhodes, M.7
Reich, D.E.8
Hirschhorn, J.N.9
-
30
-
-
33747086366
-
-
Princeton, NJ and Oxford: Princeton University Press
-
Cavalli-Sforza LL, Moroni A, Zei G. Consanguinity, Inbreeding and Genetic Drift in Italy. Princeton, NJ and Oxford : Princeton University Press, 2004.
-
(2004)
Consanguinity, Inbreeding and Genetic Drift in Italy.
-
-
Cavalli-Sforza, L.L.1
Moroni, A.2
Zei, G.3
-
31
-
-
17944369464
-
Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons
-
Asberg A, Hveem K, Thorstensen K, Ellekjter E, Kannelonning K, Fjøsne U, Halvorsen TB, Smethurst HB, Sagen E, Bjerve KS. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001 36 : 1108 15.
-
(2001)
Scand J Gastroenterol
, vol.36
, pp. 1108-15
-
-
Asberg, A.1
Hveem, K.2
Thorstensen, K.3
Ellekjter, E.4
Kannelonning, K.5
Fjøsne, U.6
Halvorsen, T.B.7
Smethurst, H.B.8
Sagen, E.9
Bjerve, K.S.10
-
32
-
-
0018783529
-
Genetics of hemochromatosis
-
Motulsky AG. Genetics of hemochromatosis. N Engl J Med 1979 301 : 1291.
-
(1979)
N Engl J Med
, vol.301
, pp. 1291
-
-
Motulsky, A.G.1
-
33
-
-
5144232051
-
Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis
-
Hunt JR, Zeng H. Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis. Am J Clin Nutr 2004 80 : 924 31.
-
(2004)
Am J Clin Nutr
, vol.80
, pp. 924-31
-
-
Hunt, J.R.1
Zeng, H.2
-
34
-
-
5144230879
-
Iron absorption in carriers of the C282Y hemochromatosis mutation
-
Beutler E. Iron absorption in carriers of the C282Y hemochromatosis mutation. Am J Clin Nutr 2004 81 : 799 800.
-
(2004)
Am J Clin Nutr
, vol.81
, pp. 799-800
-
-
Beutler, E.1
-
35
-
-
18844446921
-
Reverse cascade screening of newborns for hereditary haemochromatosis: A model for other late onset diseases?
-
Cadet E, Capron D, Gallet M, Omanga-Leke ML, Boutignon H, Julier C, Robson KJ, Rochette J. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? J Med Genet 2005 42 : 390 5.
-
(2005)
J Med Genet
, vol.42
, pp. 390-5
-
-
Cadet, E.1
Capron, D.2
Gallet, M.3
Omanga-Leke, M.L.4
Boutignon, H.5
Julier, C.6
Robson, K.J.7
Rochette, J.8
-
36
-
-
28444449032
-
Clinical aspects of hemochromatosis
-
O'neil J, Powell LW. Clinical aspects of hemochromatosis. Semin Liver Dis 2005 25 : 381 91.
-
(2005)
Semin Liver Dis
, vol.25
, pp. 381-91
-
-
O'Neil, J.1
Powell, L.W.2
|