-
2
-
-
0025325233
-
Haemochromatosis
-
Cox TM. Haemochromatosis. Blood Rev 1990; 4:75-87.
-
(1990)
Blood Rev
, vol.4
, pp. 75-87
-
-
Cox, T.M.1
-
3
-
-
0032102719
-
Haemochromatosis: An inherited metal toxicity syndrome
-
Cox TM, Kelly AL. Haemochromatosis: an inherited metal toxicity syndrome. Curr Opin Genet Devel 1998; 8(3): 274-81.
-
(1998)
Curr Opin Genet Devel
, vol.8
, Issue.3
, pp. 274-281
-
-
Cox, T.M.1
Kelly, A.L.2
-
4
-
-
0023200271
-
A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of gene near the HLA-A locus and characters to define a heterozygous population and (2) Hypothesis concerning the underlying cause of hemochromatosis-ALA association
-
Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Eden G, Bourel M. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of gene near the HLA-A locus and characters to define a heterozygous population and (2) Hypothesis concerning the underlying cause of hemochromatosis-ALA association. Am J Hum Genet 1987; 41:89-105.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 89-105
-
-
Simon, M.1
Le Mignon, L.2
Fauchet, R.3
Yaouanq, J.4
David, V.5
Eden, G.6
Bourel, M.7
-
5
-
-
9344224529
-
A novel MHC Class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee UK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes M, Schatzman RC, Brunke KJ, Drayna DT, Risen NJ, Bacon BR, Wolff RK. 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
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo, 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, U.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, M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risen, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
6
-
-
17644434333
-
2-microglobulin interaction and cell surface expression
-
2-microglobulin interaction and cell surface expression. J Biol Chem 1997; 272:14025-8.
-
(1997)
J Biol Chem
, vol.272
, pp. 14025-14028
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
Lee, V.K.4
Mapa, F.A.5
Morikang, E.6
Prass, C.E.7
Starnes, S.M.8
Wolff, R.K.9
Parkkila, S.10
Sly, W.S.11
Schatzman, R.C.12
-
7
-
-
0032478524
-
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
-
Lebrón JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998; 93:111-24.
-
(1998)
Cell
, vol.93
, pp. 111-124
-
-
Lebrón, J.A.1
Bennett, M.J.2
Vaughn, D.E.3
Chirino, A.J.4
Snow, P.M.5
Mintier, G.A.6
Feder, J.N.7
Bjorkman, P.J.8
-
8
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder JN, Penny DM, Irrinki A, Lee VK, Lebrón JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RA. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998; 95:1473-7.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1473-1477
-
-
Feder, J.N.1
Penny, D.M.2
Irrinki, A.3
Lee, V.K.4
Lebrón, J.A.5
Watson, N.6
Tsuchihashi, Z.7
Sigal, E.8
Bjorkman, P.J.9
Schatzman, R.A.10
-
9
-
-
16944363480
-
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
-
Carella M, D'Ambrosio L, Totaro, Grifa A, Valentino A, Roetto A, Franco B, Gasparini P, Camaschella C. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60:828-32.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 828-832
-
-
Carella, M.1
D'Ambrosio, L.2
Totaro3
Grifa, A.4
Valentino, A.5
Roetto, A.6
Franco, B.7
Gasparini, P.8
Camaschella, C.9
-
10
-
-
0031047769
-
Mutations in the MHC Class I-like candidate gene for haemochromatosis in French patients
-
Borot N, Roth MP, Malfroy L, Demangel C, Vinel JP, Pascal JP, Coppin H. Mutations in the MHC Class I-like candidate gene for haemochromatosis in French patients, Immunogenet 1997; 45:320-4.
-
(1997)
Immunogenet
, vol.45
, pp. 320-324
-
-
Borot, N.1
Roth, M.P.2
Malfroy, L.3
Demangel, C.4
Vinel, J.P.5
Pascal, J.P.6
Coppin, H.7
-
11
-
-
0030294028
-
Haemochromatosis and HLA-H
-
Jazwinska CE, MacCullen L, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP, Walsh TP. Haemochromatosis and HLA-H. Nat Genet 1996; 14:251-2.
-
(1996)
Nat Genet
, vol.14
, pp. 251-252
-
-
Jazwinska, C.E.1
MacCullen, L.2
Busfield, F.3
Pyper, W.R.4
Webb, S.I.5
Powell, L.W.6
Morris, C.P.7
Walsh, T.P.8
-
12
-
-
0004241915
-
-
London, Oxford University Press
-
Sheldon JH. Haemochromatosis. London, Oxford University Press, 1935:382.
-
(1935)
Haemochromatosis
, pp. 382
-
-
Sheldon, J.H.1
-
13
-
-
0001257976
-
Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in haemochromatosis
-
Finch SC, Finch CA. Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in haemochromatosis. Medicine (Baltimore) 1955; 34:381-430.
-
(1955)
Medicine (Baltimore)
, vol.34
, pp. 381-430
-
-
Finch, S.C.1
Finch, C.A.2
-
14
-
-
0021014865
-
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotrophic hypogonadism
-
Cazzola M, Ascari E, Barosi G, Claudiani G, Dacco M, Kaltwasser JP, Panaiotopoulos N, Schalk KP, Werner EE. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotrophic hypogonadism. Hum Genet 1983; 65:149-54.
-
(1983)
Hum Genet
, vol.65
, pp. 149-154
-
-
Cazzola, M.1
Ascari, E.2
Barosi, G.3
Claudiani, G.4
Dacco, M.5
Kaltwasser, J.P.6
Panaiotopoulos, N.7
Schalk, K.P.8
Werner, E.E.9
-
17
-
-
0018427678
-
Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people
-
Lamon JM, Marynick SP, Rosenblatt R, Donnelly S. Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterol 1979; 76:178-83.
-
(1979)
Gastroenterol
, vol.76
, pp. 178-183
-
-
Lamon, J.M.1
Marynick, S.P.2
Rosenblatt, R.3
Donnelly, S.4
-
18
-
-
0030755366
-
Cloning and characterization of a mammalian proton-coupled metal-ion transporter
-
Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, Boron WF, Nussberger S, Gollan JL, Hediger MA. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 1997; 388:482-8.
-
(1997)
Nature
, vol.388
, pp. 482-488
-
-
Gunshin, H.1
Mackenzie, B.2
Berger, U.V.3
Gunshin, Y.4
Romero, M.F.5
Boron, W.F.6
Nussberger, S.7
Gollan, J.L.8
Hediger, M.A.9
-
19
-
-
0023481231
-
Cardiac iron deposition in idiopathic hemochromatosis: Histologic and analytic assessment of 14 hearts from autopsy
-
Olson J, Edwards WD, McCall JT, Ilstrup DM, Gersh BJ. Cardiac iron deposition in idiopathic hemochromatosis: histologic and analytic assessment of 14 hearts from autopsy. J Am Coll Cardiol 1987; 10:1239-43.
-
(1987)
J Am Coll Cardiol
, vol.10
, pp. 1239-1243
-
-
Olson, J.1
Edwards, W.D.2
McCall, J.T.3
Ilstrup, D.M.4
Gersh, B.J.5
-
20
-
-
0021357262
-
Desferrioxamine to improve cardiac function in iron loaded patients with thalassaemia major
-
Marcus RE, Davies SC, Bantock HM, Underwood SR, Walton S, Huehns ER. Desferrioxamine to improve cardiac function in iron loaded patients with thalassaemia major. Lancet 1984; ii:392-3.
-
(1984)
Lancet
, vol.2
, pp. 392-393
-
-
Marcus, R.E.1
Davies, S.C.2
Bantock, H.M.3
Underwood, S.R.4
Walton, S.5
Huehns, E.R.6
-
21
-
-
85120224480
-
Haemochromatosis as an endocrine cause of subfertility
-
Tweed MJ, Roland JM. Haemochromatosis as an endocrine cause of subfertility. Br Med J 1998; 316:15-16.
-
(1998)
Br Med J
, vol.316
, pp. 15-16
-
-
Tweed, M.J.1
Roland, J.M.2
-
22
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
Lahiri DK, Nurnberger JI. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res 1991; 19:5444.
-
(1991)
Nucl Acids Res
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Nurnberger, J.I.2
-
23
-
-
0030884018
-
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
-
Rhodes DA, Raha-Chowdhury RR, 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. 761-764
-
-
Rhodes, D.A.1
Raha-Chowdhury, R.R.2
Cox, T.M.3
Trowsdale, J.4
-
24
-
-
0025848686
-
Coupled amplification and sequencing of genomic DNA
-
Ruano G, Kidd KK. Coupled amplification and sequencing of genomic DNA. Proc Natl Acad Sci USA 1991; 88:2815-19.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 2815-2819
-
-
Ruano, G.1
Kidd, K.K.2
-
25
-
-
39149136945
-
Hepatic pathology in relatives of patients with haemochromatosis
-
Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Path Bact 1962; 84:53-64.
-
(1962)
J Path Bact
, vol.84
, pp. 53-64
-
-
Scheuer, P.J.1
Williams, R.2
Muir, A.R.3
-
26
-
-
0027195486
-
Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis
-
Cundy T, Butler J, Bomford A, Williams R. Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis. Clin Endocrinol 1993; 38:617-20.
-
(1993)
Clin Endocrinol
, vol.38
, pp. 617-620
-
-
Cundy, T.1
Butler, J.2
Bomford, A.3
Williams, R.4
-
27
-
-
0004160326
-
-
Oxford, Blackwell Scientific
-
Bothwell TH, Charlton RW, Cook JD, Finch CA. Iron metabolism in man. Oxford, Blackwell Scientific, 1979.
-
(1979)
Iron Metabolism in Man
-
-
Bothwell, T.H.1
Charlton, R.W.2
Cook, J.D.3
Finch, C.A.4
-
28
-
-
0027142505
-
Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies
-
Jensen PD, Bagger JP, Jensen FT, Baandrup U, Christensen T, Ellegaard J. Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies. Eur J Haematol 1993; 51:199-205.
-
(1993)
Eur J Haematol
, vol.51
, pp. 199-205
-
-
Jensen, P.D.1
Bagger, J.P.2
Jensen, F.T.3
Baandrup, U.4
Christensen, T.5
Ellegaard, J.6
-
29
-
-
0022500329
-
Successful reversal by chelation therapy of congestive cardiomyopathy due to iron overload
-
Rahko PS, Salerni R, Uretsky BF. Successful reversal by chelation therapy of congestive cardiomyopathy due to iron overload. J Am Coll Cardiol 1986; 8:436-440.
-
(1986)
J Am Coll Cardiol
, vol.8
, pp. 436-440
-
-
Rahko, P.S.1
Salerni, R.2
Uretsky, B.F.3
-
30
-
-
0020510954
-
Cardiac hemochromatosis: Beneficial effects of iron removal therapy
-
Candell-Riera J, Lu L, Seres L, Gonzalez JB, Battle J, Permanyer-Miralda G, Garcia-del-Castillo H, Soler-Soler J. Cardiac hemochromatosis: beneficial effects of iron removal therapy. Am J Cardiol 1983; 52:824-9.
-
(1983)
Am J Cardiol
, vol.52
, pp. 824-829
-
-
Candell-Riera, J.1
Lu, L.2
Seres, L.3
Gonzalez, J.B.4
Battle, J.5
Permanyer-Miralda, G.6
Garcia-del-Castillo, H.7
Soler-Soler, J.8
-
31
-
-
0021234851
-
Primary hemochromatosis: Anatomic and physiologic characteristics of the cardiac ventricles and their response to phlebotomy
-
Dabestani A, Child JS, Henze E, Perloff JK, Schon H, Figueroa WC, Shelbert HR, Thessomboon S. Primary hemochromatosis: anatomic and physiologic characteristics of the cardiac ventricles and their response to phlebotomy. Am J Cardiol 1984; 54:153-9.
-
(1984)
Am J Cardiol
, vol.54
, pp. 153-159
-
-
Dabestani, A.1
Child, J.S.2
Henze, E.3
Perloff, J.K.4
Schon, H.5
Figueroa, W.C.6
Shelbert, H.R.7
Thessomboon, S.8
-
33
-
-
13144259692
-
Juvenile and adult haemochromatosis are distinct genetic disorders
-
Camaschella C, Roetto A, Cicilana M, Pasquero P, Bosio S, Gubetta L, Di Vito F, Girelli D, Totaro A, Carella M, Grif A, Gasparini P. Juvenile and adult haemochromatosis are distinct genetic disorders. Eur J Hum Genet 1997; 5:371-5.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 371-375
-
-
Camaschella, C.1
Roetto, A.2
Cicilana, M.3
Pasquero, P.4
Bosio, S.5
Gubetta, L.6
Di Vito, F.7
Girelli, D.8
Totaro, A.9
Carella, M.10
Grif, A.11
Gasparini, P.12
-
34
-
-
0023901798
-
Prevalence of hemochromatosis among 11065 presumably healthy blood donors
-
Edwards CQ, Griffin LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11065 presumably healthy blood donors. N Engl J Med 1988; 318:1355-62.
-
(1988)
N Engl J Med
, vol.318
, pp. 1355-1362
-
-
Edwards, C.Q.1
Griffin, L.M.2
Goldgar, D.3
Drummond, C.4
Skolnick, M.H.5
Kushner, J.P.6
-
35
-
-
0031016791
-
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
-
Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349:321-3.
-
(1997)
Lancet
, vol.349
, pp. 321-323
-
-
Roberts, A.G.1
Whatley, S.D.2
Morgan, R.R.3
Worwood, M.4
Elder, G.H.5
-
37
-
-
0016651662
-
Iron absorption in normal subjects and patients with idiopathic haemochromatosis: Relationship with serum ferritin concentration
-
Walters GO, Jacobs A, Worwood M, Trevette D, Thomson W. Iron absorption in normal subjects and patients with idiopathic haemochromatosis: relationship with serum ferritin concentration. Gut 1975; 16:188-92.
-
(1975)
Gut
, vol.16
, pp. 188-192
-
-
Walters, G.O.1
Jacobs, A.2
Worwood, M.3
Trevette, D.4
Thomson, W.5
-
38
-
-
84965275514
-
Iron absorption in idiopathic haemochromatosis before, during and after venesection therapy
-
Williams R, Manenti F, Williams HS, Pitcher CS. Iron absorption in idiopathic haemochromatosis before, during and after venesection therapy. Br Med J 1966; 2:78-81.
-
(1966)
Br Med J
, vol.2
, pp. 78-81
-
-
Williams, R.1
Manenti, F.2
Williams, H.S.3
Pitcher, C.S.4
-
40
-
-
50349143880
-
Absorption and excretion of iron
-
McCance RA, Widdowson EM. Absorption and excretion of iron. Lancet 1937; 233:680-4.
-
(1937)
Lancet
, vol.233
, pp. 680-684
-
-
McCance, R.A.1
Widdowson, E.M.2
-
41
-
-
0018332845
-
The kinetics of iron uptake in vitro by human duodenal mucosa: Studies in normal subjects
-
Cox TM, Peters TJ. The kinetics of iron uptake in vitro by human duodenal mucosa: studies in normal subjects. J Physiol (Lond) 1979; 289:469-78.
-
(1979)
J Physiol (Lond)
, vol.289
, pp. 469-478
-
-
Cox, T.M.1
Peters, T.J.2
-
42
-
-
0018274040
-
Uptake of iron by duodenal biopsy specimens from patients with iron deficiency and primary haemochromatosis
-
Cox TM, Peters TJ. Uptake of iron by duodenal biopsy specimens from patients with iron deficiency and primary haemochromatosis. Lancet 1978; 1:123-4.
-
(1978)
Lancet
, vol.1
, pp. 123-124
-
-
Cox, T.M.1
Peters, T.J.2
-
43
-
-
0029888931
-
A duodenal mucosal abnormality in the reduction of Fe(III) in patients with genetic haemochromatosis
-
Raja KB, Pountney D, Bomford A, Przemioslo R, Sherman D, Simpson RJ, Williams R, Peters TJ. A duodenal mucosal abnormality in the reduction of Fe(III) in patients with genetic haemochromatosis. Gut 1996; 38:765-9.
-
(1996)
Gut
, vol.38
, pp. 765-769
-
-
Raja, K.B.1
Pountney, D.2
Bomford, A.3
Przemioslo, R.4
Sherman, D.5
Simpson, R.J.6
Williams, R.7
Peters, T.J.8
-
44
-
-
0025824547
-
Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis
-
McClaren GD, Nathanson MH, Jacobs A, Trevett D, Thompson W. Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis. J Lab Clin Med 1991; 117:390-401.
-
(1991)
J Lab Clin Med
, vol.117
, pp. 390-401
-
-
McClaren, G.D.1
Nathanson, M.H.2
Jacobs, A.3
Trevett, D.4
Thompson, W.5
-
46
-
-
0030763856
-
Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
-
Fleming MD, Trenor CC, Su MA, Foernzler D, Beier DR, Dietrich WF, Andrews NC. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nature Gene 1997; 16:383-6.
-
(1997)
Nature Gene
, vol.16
, pp. 383-386
-
-
Fleming, M.D.1
Trenor, C.C.2
Su, M.A.3
Foernzler, D.4
Beier, D.R.5
Dietrich, W.F.6
Andrews, N.C.7
-
47
-
-
0028090209
-
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus
-
Logan JI, Harveyson KB, Wisdom GB, Hughes AE, Archbold GPR. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. Q J Med 1994; 87:663-70.
-
(1994)
Q J Med
, vol.87
, pp. 663-670
-
-
Logan, J.I.1
Harveyson, K.B.2
Wisdom, G.B.3
Hughes, A.E.4
Archbold, G.P.R.5
-
48
-
-
0029921680
-
A permease-oxidase complex involved in high-affinity iron uptake in yeast
-
Stearman R, Yuan DA, Yamaguchi-Iwai Y, Klausner RD, Dancis A. A permease-oxidase complex involved in high-affinity iron uptake in yeast. Science 1996; 271:1552-7.
-
(1996)
Science
, vol.271
, pp. 1552-1557
-
-
Stearman, R.1
Yuan, D.A.2
Yamaguchi-Iwai, Y.3
Klausner, R.D.4
Dancis, A.5
|