-
1
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen K.J., Gurrin L.C., Constantine C.C., Osborne N.J., Delatycki M.B., Nicoll A.J., McLaren C.E., Bahlo M., Nisselle A.E., Vulpe C.D., Anderson G.J., Southey M.C., Giles G.G., English D.R., Hopper J.L., Olynyk J.K., Powell L.W., Gertig D.M. 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
McLaren, C.E.7
Bahlo, M.8
Nisselle, A.E.9
Vulpe, C.D.10
Anderson, G.J.11
Southey, M.C.12
Giles, G.G.13
English, D.R.14
Hopper, J.L.15
Olynyk, J.K.16
Powell, L.W.17
Gertig, D.M.18
-
2
-
-
67249111755
-
HFE-associated hereditary hemochromatosis
-
Alexander J., Kowdley K.V. HFE-associated hereditary hemochromatosis. Genet. Med. 2009, 11:307-313.
-
(2009)
Genet. Med.
, vol.11
, pp. 307-313
-
-
Alexander, J.1
Kowdley, K.V.2
-
3
-
-
33645112972
-
Molecular insights into the pathogenesis of hereditary haemochromatosis
-
Pietrangelo A. Molecular insights into the pathogenesis of hereditary haemochromatosis. Gut 2006, 55:564-568.
-
(2006)
Gut
, vol.55
, pp. 564-568
-
-
Pietrangelo, A.1
-
4
-
-
38849194144
-
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1
-
Dupradeau F.Y., Pissard S., Coulhon M.P., Cadet E., Foulon K., Fourcade C., Goossens M., Case D.A., Rochette J. An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1. Hum. Mutat. 2008, 29:206.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 206
-
-
Dupradeau, F.Y.1
Pissard, S.2
Coulhon, M.P.3
Cadet, E.4
Foulon, K.5
Fourcade, C.6
Goossens, M.7
Case, D.A.8
Rochette, J.9
-
5
-
-
59049083735
-
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes
-
Mendes A.I., Ferro A., Martins R., Picanco I., Gomes S., Cerqueira R., Correia M., Nunes A.R., Esteves J., Fleming R., Faustino P. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. Ann. Hematol. 2009, 88:229-234.
-
(2009)
Ann. Hematol.
, vol.88
, pp. 229-234
-
-
Mendes, A.I.1
Ferro, A.2
Martins, R.3
Picanco, I.4
Gomes, S.5
Cerqueira, R.6
Correia, M.7
Nunes, A.R.8
Esteves, J.9
Fleming, R.10
Faustino, P.11
-
6
-
-
33646899011
-
Hereditary hemochromatosis: genetic complexity and new diagnostic approaches
-
Swinkels D.W., Janssen M.C., Bergmans J., Marx J.J. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin. Chem. 2006, 52:950-968.
-
(2006)
Clin. Chem.
, vol.52
, pp. 950-968
-
-
Swinkels, D.W.1
Janssen, M.C.2
Bergmans, J.3
Marx, J.J.4
-
7
-
-
1942469548
-
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease
-
Robson K.J., Lehmann D.J., Wimhurst V.L., Livesey K.J., Combrinck M., Merryweather-Clarke A.T., Warden D.R., Smith A.D. Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. J. Med. Genet. 2004, 41:261-265.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 261-265
-
-
Robson, K.J.1
Lehmann, D.J.2
Wimhurst, V.L.3
Livesey, K.J.4
Combrinck, M.5
Merryweather-Clarke, A.T.6
Warden, D.R.7
Smith, A.D.8
-
8
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke A.T., Pointon J.J., Shearman J.D., Robson K.J. Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 1997, 34:275-278.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
Robson, K.J.4
-
9
-
-
69949163382
-
Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors
-
Terada C.T., Santos P.C., Cancado R.D., Rostelato S., Lopreato F.R., Chiattone C.S., Guerra-Shinohara E.M. Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors. Transfus. Med. 2009, 19:245-251.
-
(2009)
Transfus. Med.
, vol.19
, pp. 245-251
-
-
Terada, C.T.1
Santos, P.C.2
Cancado, R.D.3
Rostelato, S.4
Lopreato, F.R.5
Chiattone, C.S.6
Guerra-Shinohara, E.M.7
-
10
-
-
85128547429
-
-
HFE gene mutations and iron status of Brazilian blood donors. Braz J Med Biol Res 43 107-14.
-
P.C. Santos, R.D. Cancado, C.T. Terada, S. Rostelato, I. Gonzales, R.D. Hirata, M.H. Hirata, C.S. Chiattone, and E.M. Guerra-Shinohara, HFE gene mutations and iron status of Brazilian blood donors. Braz J Med Biol Res 43 107-14.
-
-
-
Santos, P.C.1
Cancado, R.D.2
Terada, C.T.3
Rostelato, S.4
Gonzales, I.5
Hirata, R.D.6
Hirata, M.H.7
Chiattone, C.S.8
Guerra-Shinohara, E.M.9
-
11
-
-
70450214396
-
The role of hepcidin in iron metabolism
-
Nemeth E., Ganz T. The role of hepcidin in iron metabolism. Acta Haematol. 2009, 122:78-86.
-
(2009)
Acta Haematol.
, vol.122
, pp. 78-86
-
-
Nemeth, E.1
Ganz, T.2
-
12
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G., Samuels M.E., Ludwig E.H., MacDonald M.L., Franchini P.L., Dube M.P., Andres L., MacFarlane J., Sakellaropoulos N., Politou M., Nemeth E., Thompson J., Risler J.K., Zaborowska C., Babakaiff R., Radomski C.C., Pape T.D., Davidas O., Christakis J., Brissot P., Lockitch G., Ganz T., Hayden M.R., Goldberg Y.P. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat. Genet. 2004, 36:77-82.
-
(2004)
Nat. Genet.
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
MacDonald, M.L.4
Franchini, P.L.5
Dube, M.P.6
Andres, L.7
MacFarlane, J.8
Sakellaropoulos, N.9
Politou, M.10
Nemeth, E.11
Thompson, J.12
Risler, J.K.13
Zaborowska, C.14
Babakaiff, R.15
Radomski, C.C.16
Pape, T.D.17
Davidas, O.18
Christakis, J.19
Brissot, P.20
Lockitch, G.21
Ganz, T.22
Hayden, M.R.23
Goldberg, Y.P.24
more..
-
13
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A., Papanikolaou G., Politou M., Alberti F., Girelli D., Christakis J., Loukopoulos D., Camaschella C. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat. Genet. 2003, 33:21-22.
-
(2003)
Nat. Genet.
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
Alberti, F.4
Girelli, D.5
Christakis, J.6
Loukopoulos, D.7
Camaschella, C.8
-
14
-
-
2942619988
-
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
-
Lee P.L., Beutler E., Rao S.V., Barton J.C. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004, 103:4669-4671.
-
(2004)
Blood
, vol.103
, pp. 4669-4671
-
-
Lee, P.L.1
Beutler, E.2
Rao, S.V.3
Barton, J.C.4
-
15
-
-
1642367900
-
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
-
Jacolot S., Le Gac G., Scotet V., Quere I., Mura C., Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 2004, 103:2835-2840.
-
(2004)
Blood
, vol.103
, pp. 2835-2840
-
-
Jacolot, S.1
Le Gac, G.2
Scotet, V.3
Quere, I.4
Mura, C.5
Ferec, C.6
-
16
-
-
27144543714
-
A Portuguese patient homozygous for the ≥25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron
-
Porto G., Roetto A., Daraio F., Pinto J.P., Almeida S., Bacelar C., Nemeth E., Ganz T., Camaschella C. A Portuguese patient homozygous for the ≥25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. Blood 2005, 106:2922-2923.
-
(2005)
Blood
, vol.106
, pp. 2922-2923
-
-
Porto, G.1
Roetto, A.2
Daraio, F.3
Pinto, J.P.4
Almeida, S.5
Bacelar, C.6
Nemeth, E.7
Ganz, T.8
Camaschella, C.9
-
17
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C., Roetto A., Cali A., De Gobbi M., Garozzo G., Carella M., Majorano N., Totaro A., Gasparini P. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat. Genet. 2000, 25:14-15.
-
(2000)
Nat. Genet.
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Cali, A.3
De Gobbi, M.4
Garozzo, G.5
Carella, M.6
Majorano, N.7
Totaro, A.8
Gasparini, P.9
-
18
-
-
13544250486
-
Hepcidin is decreased in TFR2 hemochromatosis
-
Nemeth E., Roetto A., Garozzo G., Ganz T., Camaschella C. Hepcidin is decreased in TFR2 hemochromatosis. Blood 2005, 105:1803-1806.
-
(2005)
Blood
, vol.105
, pp. 1803-1806
-
-
Nemeth, E.1
Roetto, A.2
Garozzo, G.3
Ganz, T.4
Camaschella, C.5
-
19
-
-
21044434748
-
First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin
-
Wallace D.F., Summerville L., Lusby P.E., Subramaniam V.N. First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut 2005, 54:980-986.
-
(2005)
Gut
, vol.54
, pp. 980-986
-
-
Wallace, D.F.1
Summerville, L.2
Lusby, P.E.3
Subramaniam, V.N.4
-
20
-
-
7444240286
-
Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele
-
Biasiotto G., Roetto A., Daraio F., Polotti A., Gerardi G.M., Girelli D., Cremonesi L., Arosio P., Camaschella C. Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele. Blood Cells Mol. Dis. 2004, 33:338-343.
-
(2004)
Blood Cells Mol. Dis.
, vol.33
, pp. 338-343
-
-
Biasiotto, G.1
Roetto, A.2
Daraio, F.3
Polotti, A.4
Gerardi, G.M.5
Girelli, D.6
Cremonesi, L.7
Arosio, P.8
Camaschella, C.9
-
21
-
-
27844470641
-
A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron
-
Koyama C., Wakusawa S., Hayashi H., Ueno T., Suzuki R., Yano M., Saito H., Okazaki T. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Intern. Med. 2005, 44:990-993.
-
(2005)
Intern. Med.
, vol.44
, pp. 990-993
-
-
Koyama, C.1
Wakusawa, S.2
Hayashi, H.3
Ueno, T.4
Suzuki, R.5
Yano, M.6
Saito, H.7
Okazaki, T.8
-
22
-
-
0036683019
-
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation
-
Mattman A., Huntsman D., Lockitch G., Langlois S., Buskard N., Ralston D., Butterfield Y., Rodrigues P., Jones S., Porto G., Marra M., De Sousa M., Vatcher G. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002, 100:1075-1077.
-
(2002)
Blood
, vol.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
Langlois, S.4
Buskard, N.5
Ralston, D.6
Butterfield, Y.7
Rodrigues, P.8
Jones, S.9
Porto, G.10
Marra, M.11
De Sousa, M.12
Vatcher, G.13
-
23
-
-
33749075204
-
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload
-
Majore S., Milano F., Binni F., Stuppia L., Cerrone A., Tafuri A., De Bernardo C., Palka G., Grammatico P. Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. Haematologica 2006, 91:ECR33-ECR.
-
(2006)
Haematologica
, vol.91
-
-
Majore, S.1
Milano, F.2
Binni, F.3
Stuppia, L.4
Cerrone, A.5
Tafuri, A.6
De Bernardo, C.7
Palka, G.8
Grammatico, P.9
-
24
-
-
0034733635
-
A novel mammalian iron-regulated protein involved in intracellular iron metabolism
-
Abboud S., Haile D.J. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J. Biol. Chem. 2000, 275:19906-19912.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 19906-19912
-
-
Abboud, S.1
Haile, D.J.2
-
25
-
-
32944454860
-
Effect of ferroportin Q248H polymorphism on iron status in African children
-
Kasvosve I., Gomo Z.A., Nathoo K.J., Matibe P., Mudenge B., Loyevsky M., Gordeuk V.R. Effect of ferroportin Q248H polymorphism on iron status in African children. Am. J. Clin. Nutr. 2005, 82:1102-1106.
-
(2005)
Am. J. Clin. Nutr.
, vol.82
, pp. 1102-1106
-
-
Kasvosve, I.1
Gomo, Z.A.2
Nathoo, K.J.3
Matibe, P.4
Mudenge, B.5
Loyevsky, M.6
Gordeuk, V.R.7
-
26
-
-
33644798951
-
Genetic and clinical heterogeneity of ferroportin disease
-
Cremonesi L., Forni G.L., Soriani N., Lamagna M., Fermo I., Daraio F., Galli A., Pietra D., Malcovati L., Ferrari M., Camaschella C., Cazzola M. Genetic and clinical heterogeneity of ferroportin disease. Br. J. Haematol. 2005, 131:663-670.
-
(2005)
Br. J. Haematol.
, vol.131
, pp. 663-670
-
-
Cremonesi, L.1
Forni, G.L.2
Soriani, N.3
Lamagna, M.4
Fermo, I.5
Daraio, F.6
Galli, A.7
Pietra, D.8
Malcovati, L.9
Ferrari, M.10
Camaschella, C.11
Cazzola, M.12
-
27
-
-
0037860450
-
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
-
Hetet G., Devaux I., Soufir N., Grandchamp B., Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 2003, 102:1904-1910.
-
(2003)
Blood
, vol.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
Grandchamp, B.4
Beaumont, C.5
-
28
-
-
43949090838
-
Current approach to hemochromatosis
-
Brissot P., Troadec M.B., Bardou-Jacquet E., Le Lan C., Jouanolle A.M., Deugnier Y., Loreal O. Current approach to hemochromatosis. Blood Rev. 2008, 22:195-210.
-
(2008)
Blood Rev.
, vol.22
, pp. 195-210
-
-
Brissot, P.1
Troadec, M.B.2
Bardou-Jacquet, E.3
Le Lan, C.4
Jouanolle, A.M.5
Deugnier, Y.6
Loreal, O.7
-
29
-
-
0031873791
-
Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing
-
Salazar L.A., Hirata M.H., Cavalli S.A., Machado M.O., Hirata R.D. Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing. Clin. Chem. 1998, 44:1748-1750.
-
(1998)
Clin. Chem.
, vol.44
, pp. 1748-1750
-
-
Salazar, L.A.1
Hirata, M.H.2
Cavalli, S.A.3
Machado, M.O.4
Hirata, R.D.5
-
30
-
-
78649447212
-
HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
-
Santos P.C., Pereira A.C., Cancado R.D., Schettert I.T., Sobreira T.J., Oliveira P.S., Hirata R.D., Hirata M.H., Figueiredo M.S., Chiattone C.S., Krieger J.E., Guerra-Shinohara E.M. HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?. Blood Cells Mol. Dis. 2010, 45:302-307.
-
(2010)
Blood Cells Mol. Dis.
, vol.45
, pp. 302-307
-
-
Santos, P.C.1
Pereira, A.C.2
Cancado, R.D.3
Schettert, I.T.4
Sobreira, T.J.5
Oliveira, P.S.6
Hirata, R.D.7
Hirata, M.H.8
Figueiredo, M.S.9
Chiattone, C.S.10
Krieger, J.E.11
Guerra-Shinohara, E.M.12
-
31
-
-
5044245698
-
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload
-
Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Hum. Genet. 2004, 115:409-417.
-
(2004)
Hum. Genet.
, vol.115
, pp. 409-417
-
-
Zaahl, M.G.1
Merryweather-Clarke, A.T.2
Kotze, M.J.3
van der Merwe, S.4
Warnich, L.5
Robson, K.J.6
-
32
-
-
0035049344
-
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
-
Lee P.L., Halloran C., West C., Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Dis. 2001, 27:285-289.
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 285-289
-
-
Lee, P.L.1
Halloran, C.2
West, C.3
Beutler, E.4
-
33
-
-
78049479470
-
-
APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population. Lipids Health Dis 9 128.
-
R.O. Alvim, S.R. Freitas, N.E. Ferreira, P.C. Santos, R.S. Cunha, J.G. Mill, J.E. Krieger, and A.C. Pereira, APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population. Lipids Health Dis 9 128.
-
-
-
Alvim, R.O.1
Freitas, S.R.2
Ferreira, N.E.3
Santos, P.C.4
Cunha, R.S.5
Mill, J.G.6
Krieger, J.E.7
Pereira, A.C.8
-
34
-
-
78149306479
-
-
HJV hemochromatosis, iron overload, and hypogonadism in a brazilian man: treatment with phlebotomy and Deferasirox. Acta Haematol 124 204-205.
-
P.C. Santos, R.D. Cancado, A.C. Pereira, C.S. Chiattone, J.E. Krieger, and E.M. Guerra-Shinohara, HJV hemochromatosis, iron overload, and hypogonadism in a brazilian man: treatment with phlebotomy and Deferasirox. Acta Haematol 124 204-205.
-
-
-
Santos, P.C.1
Cancado, R.D.2
Pereira, A.C.3
Chiattone, C.S.4
Krieger, J.E.5
Guerra-Shinohara, E.M.6
-
35
-
-
0033787993
-
Prevalence and clinical significance of HFE gene mutations in patients with iron overload
-
Brandhagen D.J., Fairbanks V.F., Baldus W.P., Smith C.I., Kruckeberg K.E., Schaid D.J., Thibodeau S.N. Prevalence and clinical significance of HFE gene mutations in patients with iron overload. Am. J. Gastroenterol. 2000, 95:2910-2914.
-
(2000)
Am. J. Gastroenterol.
, vol.95
, pp. 2910-2914
-
-
Brandhagen, D.J.1
Fairbanks, V.F.2
Baldus, W.P.3
Smith, C.I.4
Kruckeberg, K.E.5
Schaid, D.J.6
Thibodeau, S.N.7
-
36
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., Dormishian F., Domingo R., Ellis M.C., Fullan A., Hinton L.M., Jones N.L., Kimmel B.E., Kronmal G.S., Lauer P., Lee V.K., Loeb D.B., Mapa F.A., McClelland E., Meyer N.C., Mintier G.A., Moeller N., Moore T., Morikang E., Prass C.E., Quintana L., Starnes S.M., Schatzman R.C., Brunke K.J., Drayna D.T., Risch N.J., Bacon B.R., Wolff R.K. 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, 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..
-
37
-
-
0033066062
-
A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria
-
Brissot P., Moirand R., Jouanolle A.M., Guyader D., Le Gall J.Y., Deugnier Y., David V. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J. Hepatol. 1999, 30:588-593.
-
(1999)
J. Hepatol.
, vol.30
, pp. 588-593
-
-
Brissot, P.1
Moirand, R.2
Jouanolle, A.M.3
Guyader, D.4
Le Gall, J.Y.5
Deugnier, Y.6
David, V.7
-
38
-
-
18144444007
-
Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis
-
Datz C., Lalloz M.R., Vogel W., Graziadei I., Hackl F., Vautier G., Layton D.M., Maier-Dobersberger T., Ferenci P., Penner E., Sandhofer F., Bomford A., Paulweber B. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J. Hepatol. 1997, 27:773-779.
-
(1997)
J. Hepatol.
, vol.27
, pp. 773-779
-
-
Datz, C.1
Lalloz, M.R.2
Vogel, W.3
Graziadei, I.4
Hackl, F.5
Vautier, G.6
Layton, D.M.7
Maier-Dobersberger, T.8
Ferenci, P.9
Penner, E.10
Sandhofer, F.11
Bomford, A.12
Paulweber, B.13
-
39
-
-
67651018727
-
Iron overload in the Asian community
-
Lok C.Y., Merryweather-Clarke A.T., Viprakasit V., Chinthammitr Y., Srichairatanakool S., Limwongse C., Oleesky D., Robins A.J., Hudson J., Wai P., Premawardhena A., de Silva H.J., Dassanayake A., McKeown C., Jackson M., Gama R., Khan N., Newman W., Banait G., Chilton A., Wilson-Morkeh I., Weatherall D.J., Robson K.J. Iron overload in the Asian community. Blood 2009, 114:20-25.
-
(2009)
Blood
, vol.114
, pp. 20-25
-
-
Lok, C.Y.1
Merryweather-Clarke, A.T.2
Viprakasit, V.3
Chinthammitr, Y.4
Srichairatanakool, S.5
Limwongse, C.6
Oleesky, D.7
Robins, A.J.8
Hudson, J.9
Wai, P.10
Premawardhena, A.11
de Silva, H.J.12
Dassanayake, A.13
McKeown, C.14
Jackson, M.15
Gama, R.16
Khan, N.17
Newman, W.18
Banait, G.19
Chilton, A.20
Wilson-Morkeh, I.21
Weatherall, D.J.22
Robson, K.J.23
more..
-
40
-
-
11844266560
-
Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population
-
Leone P.E., Gimenez P., Collantes J.C., Paz-y-Mino C. Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population. Ann. Hematol. 2005, 84:103-105.
-
(2005)
Ann. Hematol.
, vol.84
, pp. 103-105
-
-
Leone, P.E.1
Gimenez, P.2
Collantes, J.C.3
Paz-y-Mino, C.4
-
41
-
-
24644443139
-
Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients
-
Potekhina E.S., Lavrov A.V., Samokhodskaya L.M., Efimenko A.Y., Balatskiy A.V., Baev A.A., Litvinova M.M., Nikitina L.A., Shipulin G.A., Bochkov N.P., Tkachuk V.A., Bochkov V.N. Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. Blood Cells Mol. Dis. 2005, 35:182-188.
-
(2005)
Blood Cells Mol. Dis.
, vol.35
, pp. 182-188
-
-
Potekhina, E.S.1
Lavrov, A.V.2
Samokhodskaya, L.M.3
Efimenko, A.Y.4
Balatskiy, A.V.5
Baev, A.A.6
Litvinova, M.M.7
Nikitina, L.A.8
Shipulin, G.A.9
Bochkov, N.P.10
Tkachuk, V.A.11
Bochkov, V.N.12
-
42
-
-
1642480107
-
Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India
-
Thakur V., Guptan R.C., Hashmi A.Z., Sakhuja P., Malhotra V., Sarin S.K. Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India. J. Gastroenterol. Hepatol. 2004, 19:86-90.
-
(2004)
J. Gastroenterol. Hepatol.
, vol.19
, pp. 86-90
-
-
Thakur, V.1
Guptan, R.C.2
Hashmi, A.Z.3
Sakhuja, P.4
Malhotra, V.5
Sarin, S.K.6
-
43
-
-
0034610781
-
Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
-
Bennett M.J., Lebron J.A., Bjorkman P.J. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 2000, 403:46-53.
-
(2000)
Nature
, vol.403
, pp. 46-53
-
-
Bennett, M.J.1
Lebron, J.A.2
Bjorkman, P.J.3
-
44
-
-
20244386421
-
HJV gene mutations in European patients with juvenile hemochromatosis
-
Gehrke S.G., Pietrangelo A., Kascak M., Braner A., Eisold M., Kulaksiz H., Herrmann T., Hebling U., Bents K., Gugler R., Stremmel W. HJV gene mutations in European patients with juvenile hemochromatosis. Clin. Genet. 2005, 67:425-428.
-
(2005)
Clin. Genet.
, vol.67
, pp. 425-428
-
-
Gehrke, S.G.1
Pietrangelo, A.2
Kascak, M.3
Braner, A.4
Eisold, M.5
Kulaksiz, H.6
Herrmann, T.7
Hebling, U.8
Bents, K.9
Gugler, R.10
Stremmel, W.11
-
45
-
-
4544314123
-
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
-
Le Gac G., Scotet V., Ka C., Gourlaouen I., Bryckaert L., Jacolot S., Mura C., Ferec C. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum. Mol. Genet. 2004, 13:1913-1918.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1913-1918
-
-
Le Gac, G.1
Scotet, V.2
Ka, C.3
Gourlaouen, I.4
Bryckaert, L.5
Jacolot, S.6
Mura, C.7
Ferec, C.8
-
46
-
-
0012994611
-
Hepcidin, a new iron regulatory peptide
-
Nicolas G., Viatte L., Bennoun M., Beaumont C., Kahn A., Vaulont S. Hepcidin, a new iron regulatory peptide. Blood Cells Mol. Dis. 2002, 29:327-335.
-
(2002)
Blood Cells Mol. Dis.
, vol.29
, pp. 327-335
-
-
Nicolas, G.1
Viatte, L.2
Bennoun, M.3
Beaumont, C.4
Kahn, A.5
Vaulont, S.6
-
47
-
-
69249219364
-
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene
-
Altes A., Bach V., Ruiz A., Esteve A., Felez J., Remacha A.F., Sarda M.P., Baiget M. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Ann. Hematol. 2009, 88:951-955.
-
(2009)
Ann. Hematol.
, vol.88
, pp. 951-955
-
-
Altes, A.1
Bach, V.2
Ruiz, A.3
Esteve, A.4
Felez, J.5
Remacha, A.F.6
Sarda, M.P.7
Baiget, M.8
-
48
-
-
0034164559
-
A novel polymorphism (219G>A) in the transferrin receptor gene
-
Meregalli M., Corbetta N., Pellagatti A., Martinez di Montemuros F., Tavazzi D., Fargion S., Sampietro M. A novel polymorphism (219G>A) in the transferrin receptor gene. Hum. Mutat. 2000, 15:389.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 389
-
-
Meregalli, M.1
Corbetta, N.2
Pellagatti, A.3
Martinez di Montemuros, F.4
Tavazzi, D.5
Fargion, S.6
Sampietro, M.7
-
49
-
-
77957340866
-
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
-
Mayr R., Janecke A.R., Schranz M., Griffiths W.J., Vogel W., Pietrangelo A., Zoller H. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J. Hepatol. 2010, 53:941-949.
-
(2010)
J. Hepatol.
, vol.53
, pp. 941-949
-
-
Mayr, R.1
Janecke, A.R.2
Schranz, M.3
Griffiths, W.J.4
Vogel, W.5
Pietrangelo, A.6
Zoller, H.7
-
50
-
-
0013350026
-
Seeking candidate mutations that affect iron homeostasis
-
Lee P., Gelbart T., West C., Halloran C., Beutler E. Seeking candidate mutations that affect iron homeostasis. Blood Cells Mol. Dis. 2002, 29:471-487.
-
(2002)
Blood Cells Mol. Dis.
, vol.29
, pp. 471-487
-
-
Lee, P.1
Gelbart, T.2
West, C.3
Halloran, C.4
Beutler, E.5
-
51
-
-
70449587089
-
HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants
-
Barton J.C., Lafreniere S.A., Leiendecker-Foster C., Li H., Acton R.T., Press R.D., Eckfeldt J.H. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am. J. Hematol. 2009, 84:710-714.
-
(2009)
Am. J. Hematol.
, vol.84
, pp. 710-714
-
-
Barton, J.C.1
Lafreniere, S.A.2
Leiendecker-Foster, C.3
Li, H.4
Acton, R.T.5
Press, R.D.6
Eckfeldt, J.H.7
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