-
1
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
Olynyk J.K., Cullen D.J., Aquilia S., Rossi E., Summerville L., Powell L.W. A population-based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 341:1999;718-724
-
(1999)
N. Engl. 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
-
2
-
-
0033759823
-
Haemochromatosis: Novel gene discovery and the molecular pathophysiology of iron metabolism
-
Griffiths W., Cox T. Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. Hum. Mol. Genet. 9:2000;2377-2382
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2377-2382
-
-
Griffiths, W.1
Cox, T.2
-
4
-
-
13144259692
-
Juvenile and adult haemochromatosis are distinct genetic disorders
-
Camaschella C., Roetto A., Cicilano M., Pasquero P., Bosio S., Gubetta L., DiVito F., Girelli D., Totaro A., Carella M., Grifa A., Gasparini P. Juvenile and adult haemochromatosis are distinct genetic disorders. Eur. J. Hum. Genet. 5:1997;371-375
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 371-375
-
-
Camaschella, C.1
Roetto, A.2
Cicilano, M.3
Pasquero, P.4
Bosio, S.5
Gubetta, L.6
Divito, F.7
Girelli, D.8
Totaro, A.9
Carella, M.10
Grifa, A.11
Gasparini, P.12
-
5
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G., Samuels M.E., Ludwig E.H., MacDonald M.L.E., Franchini P.L., Dubé 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. 36:2004;77-82
-
(2004)
Nat. Genet.
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
MacDonald, M.L.E.4
Franchini, P.L.5
Dubé, 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..
-
6
-
-
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. Diseases. 29:2002;327-335
-
(2002)
Blood Cells Mol. Diseases
, vol.29
, pp. 327-335
-
-
Nicolas, G.1
Viatte, L.2
Bennoun, M.3
Beaumont, C.4
Kahn, A.5
Vaulont, S.6
-
7
-
-
0347356639
-
Hepcidin, the recently identified peptide that appears to regulate iron absorption
-
Leong W.I., Lonnerdal B. Hepcidin, the recently identified peptide that appears to regulate iron absorption. J. Nutr. 134:2004;1-4
-
(2004)
J. Nutr.
, vol.134
, pp. 1-4
-
-
Leong, W.I.1
Lonnerdal, B.2
-
8
-
-
1542283709
-
Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)
-
Roetto A., Daraio F., Poporato P., Caruso R., Cox T.M., Cazzola M., Gasparini P., Piperno A., Camaschella C. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 103:2004;2407-2409
-
(2004)
Blood
, vol.103
, pp. 2407-2409
-
-
Roetto, A.1
Daraio, F.2
Poporato, P.3
Caruso, R.4
Cox, T.M.5
Cazzola, M.6
Gasparini, P.7
Piperno, A.8
Camaschella, C.9
-
9
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A., Papanikolaou G., Politou M., Alberti F., Girelli D., Christokopoulos D., Camaschella C. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat. Genet. 33:2003;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
Christokopoulos, D.6
Camaschella, C.7
-
10
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
Merryweather-Clarke A.T., Cadet E., Bomford A., Capron D., Viprakasit V., Miller A., McHugh P.J., Chapman R.W., Pointon J.J., Wimhurst V.L., Livesey K.J., Tanphaichitr V., Rochette J., Robson K.J. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 12:2003;2241-2247
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
Capron, D.4
Viprakasit, V.5
Miller, A.6
McHugh, P.J.7
Chapman, R.W.8
Pointon, J.J.9
Wimhurst, V.L.10
Livesey, K.J.11
Tanphaichitr, V.12
Rochette, J.13
Robson, K.J.14
-
11
-
-
0028813326
-
Haemochromatosis presenting as congestive heart failure
-
Porter J., Cary N., Schofield P. Haemochromatosis presenting as congestive heart failure. Br. Heart J. 73:1995;73-75
-
(1995)
Br. Heart J.
, vol.73
, pp. 73-75
-
-
Porter, J.1
Cary, N.2
Schofield, P.3
-
12
-
-
0021014865
-
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotrophic hypogonadism
-
Cazzola M., Ascari E., Barosi G., Claudiani G., Dacco M., Kaltwasser J.P., Panaitopoulos N., Schalk K.P., Werner E.E. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotrophic hypogonadism. Hum. Genet. 65:1983;149-154
-
(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
Panaitopoulos, N.7
Schalk, K.P.8
Werner, E.E.9
-
13
-
-
0036075097
-
Natural history of juvenile haemochromatosis
-
DeGobbi M., Roetto A., Piperno A., Mariani R., Alberti F., Papanikolaou G., Politou M., Lockitch G., Girelli D., Fargion S., Cox T.M., Gasparini P., Cazzola M., Camaschella C. Natural history of juvenile haemochromatosis. Br. J. Haematol. 117:2002;973-979
-
(2002)
Br. J. Haematol.
, vol.117
, pp. 973-979
-
-
Degobbi, M.1
Roetto, A.2
Piperno, A.3
Mariani, R.4
Alberti, F.5
Papanikolaou, G.6
Politou, M.7
Lockitch, G.8
Girelli, D.9
Fargion, S.10
Cox, T.M.11
Gasparini, P.12
Cazzola, M.13
Camaschella, C.14
-
14
-
-
2942619988
-
Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
-
Lee P.L., Beutler E., Sreenivas V.R., James C.B. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood. 103:2004;4669-4671
-
(2004)
Blood
, vol.103
, pp. 4669-4671
-
-
Lee, P.L.1
Beutler, E.2
Sreenivas, V.R.3
James, C.B.4
-
15
-
-
2542468736
-
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
-
Lanzara C., Roetto A., Daraio F., Pivard S., Ficarella R., Simard H., Cox T., Cazzola M., Piperno A., Gimenez-Roqueplo A.P., Grammatico P., Volinial S., Gasparini P., Camaschella C. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 103:2004;4317-4321
-
(2004)
Blood
, vol.103
, pp. 4317-4321
-
-
Lanzara, C.1
Roetto, A.2
Daraio, F.3
Pivard, S.4
Ficarella, R.5
Simard, H.6
Cox, T.7
Cazzola, M.8
Piperno, A.9
Gimenez-Roqueplo, A.P.10
Grammatico, P.11
Volinial, S.12
Gasparini, P.13
Camaschella, C.14
-
17
-
-
0041922299
-
Cardiogenic shock in a young woman revealing juvenile haemochromatosis
-
Durand E., Grinda J.M., Bruneval P. Cardiogenic shock in a young woman revealing juvenile haemochromatosis. Heart. 89:2003;870
-
(2003)
Heart
, vol.89
, pp. 870
-
-
Durand, E.1
Grinda, J.M.2
Bruneval, P.3
-
18
-
-
0033358675
-
Juvenile hemochromatosis locus maps to chromosome 1q
-
Roetto A., Totaro A., Cazzola M., Cicilano M., Bosio S., D'Ascola G., Carella M., Zelante L., Kelly A.L., Cox T.M., Gasparini P., Camaschella C. Juvenile hemochromatosis locus maps to chromosome 1q. Am. J. Hum. Genet. 64:1999;1388-1393
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1388-1393
-
-
Roetto, A.1
Totaro, A.2
Cazzola, M.3
Cicilano, M.4
Bosio, S.5
D'Ascola, G.6
Carella, M.7
Zelante, L.8
Kelly, A.L.9
Cox, T.M.10
Gasparini, P.11
Camaschella, C.12
-
19
-
-
10744230412
-
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
-
Rivard R.S., Lanzara C., Grimard D., Carella M., Simard H., Ficarella R., Simard R., D'Adamo A.P., Férec C., Camaschella C., Mura C., Roetto A., Braekeleer M., Bechner L., Gasparini P. Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. Eur. J. Hum. Genet. 11:2003;585-589
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 585-589
-
-
Rivard, R.S.1
Lanzara, C.2
Grimard, D.3
Carella, M.4
Simard, H.5
Ficarella, R.6
Simard, R.7
D'Adamo, A.P.8
Férec, C.9
Camaschella, C.10
Mura, C.11
Roetto, A.12
Braekeleer, M.13
Bechner, L.14
Gasparini, P.15
-
20
-
-
0034749597
-
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
-
Papanikolaou G., Politou M., Roetto A., Bosio G., Sakolaropoulos N., Camaschella C., Loukopoulos D. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol. Diseases. 27:2001;744-749
-
(2001)
Blood Cells Mol. Diseases
, vol.27
, pp. 744-749
-
-
Papanikolaou, G.1
Politou, M.2
Roetto, A.3
Bosio, G.4
Sakolaropoulos, N.5
Camaschella, C.6
Loukopoulos, D.7
|