-
1
-
-
0000702937
-
Hemochromatosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Bothwell TH, Charlton RW, Motulsky AG. Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995:2237-69.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2237-2269
-
-
Bothwell, T.H.1
Charlton, R.W.2
Motulsky, A.G.3
-
2
-
-
16144368650
-
Haemochromatosis and HLA-H
-
Jouanolle AM, Gandon G, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, Chauvel B, Bouric P, Cam G, Andrieux N, Le Gall J-Y, David V. Haemochromatosis and HLA-H. Nofure Genêt 1996;14:251-2.
-
(1996)
Nofure Genêt
, vol.14
, pp. 251-252
-
-
Jouanolle, A.M.1
Gandon, G.2
Blayau, M.3
Campion, M.L.4
Yaouanq, J.5
Mosser, J.6
Fergelot, P.7
Chauvel, B.8
Bouric, P.9
Cam, G.10
Andrieux, N.11
Le Gall, J.-Y.12
David, V.13
-
3
-
-
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 Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 1996;13:399-408.
-
(1996)
Nature 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 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..
-
4
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterol 1996;110:1107-19.
-
(1996)
Gastroenterol
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
Stremmel, W.4
Haussinger, D.5
Strohmeyer, G.6
-
5
-
-
0032496881
-
Hereditary hemochromatosis gene discovery and its implications for population-based screening
-
Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, Barton JC, Beutler E, Brittenham G, Buchanan A, Clayton EW, Cogswell ME, Meslin EM, Motulsky AG, Powell LW, Sigal E, Wilfond BS, Collins FS. Hereditary hemochromatosis gene discovery and its implications for population-based screening. JAMA 1998;280:172-8.
-
(1998)
JAMA
, vol.280
, pp. 172-178
-
-
Burke, W.1
Thomson, E.2
Khoury, M.J.3
McDonnell, S.M.4
Press, N.5
Adams, P.C.6
Barton, J.C.7
Beutler, E.8
Brittenham, G.9
Buchanan, A.10
Clayton, E.W.11
Cogswell, M.E.12
Meslin, E.M.13
Motulsky, A.G.14
Powell, L.W.15
Sigal, E.16
Wilfond, B.S.17
Collins, F.S.18
-
6
-
-
0032032503
-
Screening for hemochromatosis and iron deficiency in employees and primary care patients in western Germany
-
Niederau C, Niederau CM, Lange S, Littauer A, Abdel-Jalil N, Maurer M, Häussinger D, Strohmeyer G. Screening for hemochromatosis and iron deficiency in employees and primary care patients in western Germany. Ann Intern Med 1998;128:337-45.
-
(1998)
Ann Intern Med
, vol.128
, pp. 337-345
-
-
Niederau, C.1
Niederau, C.M.2
Lange, S.3
Littauer, A.4
Abdel-Jalil, N.5
Maurer, M.6
Häussinger, D.7
Strohmeyer, G.8
-
8
-
-
0031936407
-
Distribution of transferrin saturation in an Australian population: Relevance to the early diagnosis of hemochromatosis
-
McLaren CE, McLachlan GJ, Halliday JW, Webb SI, Leggettt BA, Jazwinska EC, Crawford DHG, Gordeuk VR, McLaren GD, Powell LW. Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterol 1998;114:543-9.
-
(1998)
Gastroenterol
, vol.114
, pp. 543-549
-
-
McLaren, C.E.1
McLachlan, G.J.2
Halliday, J.W.3
Webb, S.I.4
Leggettt, B.A.5
Jazwinska, E.C.6
Crawford, D.H.G.7
Gordeuk, V.R.8
McLaren, G.D.9
Powell, L.W.10
-
9
-
-
0034056799
-
Population screening for hemochromatosis: A comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 blood donors
-
Adams PC, Kertesz AE, McLaren CE, Barr R, Bamford A, Chakrabarti S. Population screening for hemochromatosis:a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 blood donors. Hepatology 2000;31:1160-4.
-
(2000)
Hepatology
, vol.31
, pp. 1160-1164
-
-
Adams, P.C.1
Kertesz, A.E.2
McLaren, C.E.3
Barr, R.4
Bamford, A.5
Chakrabarti, S.6
-
10
-
-
0033050583
-
Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping
-
Adams PC, Valberg LS. Screening blood donors for hereditary hemochromatosis:decision analysis model comparing genotyping to phenotyping. Am J Gastro 1999;94:1593-600.
-
(1999)
Am J Gastro
, vol.94
, pp. 1593-1600
-
-
Adams, P.C.1
Valberg, L.S.2
-
11
-
-
0036264369
-
Diagnosis of hemochromatosis
-
Powell LW. Diagnosis of hemochromatosis. Semin Gastrointest Dis 2002;13:80-8.
-
(2002)
Semin Gastrointest Dis
, vol.13
, pp. 80-88
-
-
Powell, L.W.1
-
12
-
-
0034707120
-
Disease-related conditions in relatives of patients with hemochromatosis
-
Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, Edwards CQ, Kushner JP. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000;343:1529-35.
-
(2000)
N Engl J Med
, vol.343
, pp. 1529-1535
-
-
Bulaj, Z.J.1
Ajioka, R.S.2
Phillips, J.D.3
LaSalle, B.A.4
Jorde, L.B.5
Griffen, L.M.6
Edwards, C.Q.7
Kushner, J.P.8
-
13
-
-
0031969395
-
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
-
Crawford DHG, Jazwinsko EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterol 1998;114:1003-8.
-
(1998)
Gastroenterol
, vol.114
, pp. 1003-1008
-
-
Crawford, D.H.G.1
Jazwinsko, E.C.2
Cullen, L.M.3
Powell, L.W.4
-
14
-
-
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;130:953-62.
-
(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
-
15
-
-
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;359:211-18.
-
(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
-
16
-
-
0346553006
-
Clinical haemochromatosis in HFE mutation carriers
-
Cox T, Rochette J, Camaschella C, Walker A, Robson K. Clinical haemochromatosis in HFE mutation carriers. Lancet 2002;360:412.
-
(2002)
Lancet
, vol.360
, pp. 412
-
-
Cox, T.1
Rochette, J.2
Camaschella, C.3
Walker, A.4
Robson, K.5
-
17
-
-
0036944167
-
Hereditary haemochromatosis: Only 1% of adult HFE C282Y homozygotes in South Wales have o clinical diagnosis of iron overload
-
McCune CA, Al-Jader LN, May A, Hayes SL, Jackson HA, Worwood M. Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have o clinical diagnosis of iron overload. Hum Genet 2002;111:538-43.
-
(2002)
Hum Genet
, vol.111
, pp. 538-543
-
-
McCune, C.A.1
Al-Jader, L.N.2
May, A.3
Hayes, S.L.4
Jackson, H.A.5
Worwood, M.6
-
18
-
-
0033002960
-
A novel mutation of HFE explains the classical phenotype of genetic haemochromatosis in a C282Y heterozygote
-
Wallace DF, Dooley JS, Walker AP. A novel mutation of HFE explains the classical phenotype of genetic haemochromatosis in a C282Y heterozygote. Gastroenterol 1999;116:1409-12.
-
(1999)
Gastroenterol
, vol.116
, pp. 1409-1412
-
-
Wallace, D.F.1
Dooley, J.S.2
Walker, A.P.3
-
19
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
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 Eng J Med 1999;341:718-24.
-
(1999)
N Eng J Med
, vol.341
, pp. 718-724
-
-
Olynyk, J.K.1
Cullen, D.J.2
Aquilia, S.3
Rossi, E.4
Summerville, L.5
Powell, L.W.6
-
20
-
-
0034928709
-
Estimating the efficacy and efficiency of cascade genetic screening
-
Krawczak M, Cooper DN, Schmidtke J. Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet 2001;69:361-70.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 361-370
-
-
Krawczak, M.1
Cooper, D.N.2
Schmidtke, J.3
-
22
-
-
0008266874
-
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
-
Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH, Jouanolle AM, Mosser A, David V, Le Gall J-Y, Halsall DJ, Elsey TS, Kelly A, Cox TM, Clare M, Bomford A, Vandwalle JL, Rochette J, Borot N, Coppin H, Roth M-P, Ryan E, Crowe J, Totaro A, Gasparini P, Roetto A, Camaschella C, Darke C, Wallace DF, Saeb-Parsy K, Dooley JS, Worwood M, Walker AP. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. Nature Genet 1999;23:271.
-
(1999)
Nature Genet
, vol.23
, pp. 271
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
Robson, K.J.H.4
Jouanolle, A.M.5
Mosser, A.6
David, V.7
Le Gall, J.-Y.8
Halsall, D.J.9
Elsey, T.S.10
Kelly, A.11
Cox, T.M.12
Clare, M.13
Bomford, A.14
Vandwalle, J.L.15
Rochette, J.16
Borot, N.17
Coppin, H.18
Roth, M.-P.19
Ryan, E.20
Crowe, J.21
Totaro, A.22
Gasparini, P.23
Roetto, A.24
Camaschella, C.25
Darke, C.26
Wallace, D.F.27
Saeb-Parsy, K.28
Dooley, J.S.29
Worwood, M.30
Walker, A.P.31
more..
-
23
-
-
0037318638
-
A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis
-
Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix J-P, Dautréaux M, Fardellone P, Leflon P, Merryweather-Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJH, Rochette J. A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med 2003;253:217-24.
-
(2003)
J Intern Med
, vol.253
, pp. 217-224
-
-
Cadet, E.1
Capron, D.2
Perez, A.S.3
Crépin, S.N.4
Arlot, S.5
Ducroix, J.-P.6
Dautréaux, M.7
Fardellone, P.8
Leflon, P.9
Merryweather-Clarke, A.T.10
Livesey, K.J.11
Pointon, J.J.12
Rose, P.13
Harcourt, J.14
Emery, J.15
Sueur, J.M.16
Feyt, R.17
Robson, K.J.H.18
Rochette, J.19
-
24
-
-
0346553006
-
Clinical haemochromatosis in HFE mutation carriers
-
author reply 413-14
-
Allen KJ, Warner B, Delatycki MB. Clinical haemochromatosis in HFE mutation carriers. Lancet 2002;360:412-13 (author reply 413-14).
-
(2002)
Lancet
, vol.360
, pp. 412-413
-
-
Allen, K.J.1
Warner, B.2
Delatycki, M.B.3
-
25
-
-
0038542811
-
Clinical consequences of iron overload in hemochromatosis homozygotes
-
discussion 3354-8
-
Ajioka RS, Kushner JP. Clinical consequences of iron overload in hemochromatosis homozygotes. Blood 2003;101:3351-3 (discussion 3354-8).
-
(2003)
Blood
, vol.101
, pp. 3351-3353
-
-
Ajioka, R.S.1
Kushner, J.P.2
-
26
-
-
0030781497
-
Neonatal screening for the hemochromatosis gene defect
-
Cullen LM, Summerville L, Glassick TV, Crawford DHG, Powell LW, Jazwinska EC. Neonatal screening for the hemochromatosis gene defect. Blood 1997;90:4236-37.
-
(1997)
Blood
, vol.90
, pp. 4236-4237
-
-
Cullen, L.M.1
Summerville, L.2
Glassick, T.V.3
Crawford, D.H.G.4
Powell, L.W.5
Jazwinska, E.C.6
-
27
-
-
0032956134
-
A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations
-
Merryweather-Clarke AT, Simonsen H, Shearman JD, Pointon JJ, Nørgaard-Pedersen B, Robson KJH. A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Human Mutation 1999;13:154-9.
-
(1999)
Human Mutation
, vol.13
, pp. 154-159
-
-
Merryweather-Clarke, A.T.1
Simonsen, H.2
Shearman, J.D.3
Pointon, J.J.4
Nørgaard-Pedersen, B.5
Robson, K.J.H.6
-
28
-
-
18844450630
-
A user persepective on genetic screening for hemochromatosis. Preliminary results of the psychological effects on HFE genotyping and level of information in a population of Danish man
-
Bethesda, Maryland, USA
-
Pedersen PPE, Husum K, Milman K. A user persepective on genetic screening for hemochromatosis. Preliminary results of the psychological effects on HFE genotyping and level of information in a population of Danish man. Bioiron 2003, Bethesda, Maryland, USA, 2003.
-
(2003)
Bioiron 2003
-
-
Pedersen, P.P.E.1
Husum, K.2
Milman, K.3
-
29
-
-
0034869504
-
Psychosocial impact of C282Y mutation testing for hemochromatosis
-
Power TE, Adams PC. Psychosocial impact of C282Y mutation testing for hemochromatosis. Genet Test 2001;5:107-10.
-
(2001)
Genet Test
, vol.5
, pp. 107-110
-
-
Power, T.E.1
Adams, P.C.2
-
30
-
-
0032403964
-
Screening for hemochromatosis in primary care settings
-
McDonnell SM, Phatak PD, Felitti V, Hover A, McLaren GD. Screening for hemochromatosis in primary care settings. Ann Intern Med 1998;129:962-70.
-
(1998)
Ann Intern Med
, vol.129
, pp. 962-970
-
-
McDonnell, S.M.1
Phatak, P.D.2
Felitti, V.3
Hover, A.4
McLaren, G.D.5
-
31
-
-
18544376989
-
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis. A study of 9396 French people
-
Deugnier Y, Jouanolle A-M, Chaperon J, Moirand R, Pithois C, Meyer J-F, Pouchard M, Lafraise B, Brigand A, Caserio-Schoenemann C, Adams P, Le-Gall J-Y, David V. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis. A study of 9396 French people. Br J Haematol 2002;11B:1170-8.
-
(2002)
Br J Haematol
, vol.11 B
, 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
Adams, P.11
Le-Gall, J.-Y.12
David, V.13
-
32
-
-
0001019873
-
Primary iron overload
-
Brock JH, Halliday JW, Pippard MJ, Powell LW, eds. London: WB Saunders Ltd.
-
Powell LW, Jazwinska E, Halliday JW. Primary iron overload. In: Brock JH, Halliday JW, Pippard MJ, Powell LW, eds. Iron metabolism in health and disease. London: WB Saunders Ltd, 1994;227-70.
-
(1994)
Iron Metabolism in Health and Disease
, pp. 227-270
-
-
Powell, L.W.1
Jazwinska, E.2
Halliday, J.W.3
|