-
2
-
-
0033066062
-
A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria
-
Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, et al. A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria. J Hepatol 1999;30:588-93.
-
(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
-
3
-
-
0033358675
-
The juvenile hemochromatosis locus maps to chromosome 1q
-
Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascolla G, et al. The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999;64:1388-93.
-
(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'Ascolla, G.6
-
4
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-60.
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
Piga, A.4
Longo, F.5
Garozzo, G.6
-
5
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-23.
-
(2001)
J Clin Invest
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
-
6
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-4.
-
(2001)
Nat Genet
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
Berghuis, B.4
Van Dongen, J.W.5
Breuning, M.H.6
-
7
-
-
0034677467
-
Positional cloning of zebrafish ferroportin identifies a conserved vertebrate iron exporter
-
Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, et al. Positional cloning of zebrafish ferroportin identifies a conserved vertebrate iron exporter. Nature 2000;403:776-81.
-
(2000)
Nature
, vol.403
, pp. 776-781
-
-
Donovan, A.1
Brownlie, A.2
Zhou, Y.3
Shepard, J.4
Pratt, S.J.5
Moynihan, J.6
-
8
-
-
0033861745
-
A novel duodenal iron-regulated, IREG-1, implicated in the basolateral transfer of iron to the circulation
-
McKie AYT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, et al. A novel duodenal iron-regulated, IREG-1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000;5:299-309.
-
(2000)
Mol Cell
, vol.5
, pp. 299-309
-
-
McKie, A.Y.T.1
Marciani, P.2
Rolfs, A.3
Brennan, K.4
Wehr, K.5
Barrow, D.6
-
9
-
-
0034733635
-
A novel mammalian iron-regulated protein involved in intracellular iron metabolism
-
Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 2000;26:19906-12.
-
(2000)
J Biol Chem
, vol.26
, pp. 19906-19912
-
-
Abboud, S.1
Haile, D.J.2
-
10
-
-
0034964604
-
A mutation in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
-
Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, et al. A mutation in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001;69:191-7.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 191-197
-
-
Kato, J.1
Fujikawa, K.2
Kanda, M.3
Fukuda, N.4
Sasaki, K.5
Takayama, T.6
-
11
-
-
0028895749
-
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
-
Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995;9:267-72.
-
(1995)
Nat Genet
, vol.9
, pp. 267-272
-
-
Yoshida, K.1
Furihata, K.2
Takeda, S.3
Nakamura, A.4
Yamamoto, K.5
Morita, H.6
-
12
-
-
0036623360
-
Aceruloplasminemia: New clinical, pathophysiological, therapeutic insights
-
Loréal O, Turlin B, Pigeon C, Moisan A, Ropert M, Morice P, et al. Aceruloplasminemia: new clinical, pathophysiological, therapeutic insights. J Hepatol 2002;36:851-6.
-
(2002)
J Hepatol
, vol.36
, pp. 851-856
-
-
Loréal, O.1
Turlin, B.2
Pigeon, C.3
Moisan, A.4
Ropert, M.5
Morice, P.6
-
13
-
-
0031028026
-
A new syndrome of liver iron overload with normal transferrin saturation
-
Moirand R, Mortaji A, Loréal O, Paillard F, Brissot P, Deugnier Y. A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997;349:95-7.
-
(1997)
Lancet
, vol.349
, pp. 95-97
-
-
Moirand, R.1
Mortaji, A.2
Loréal, O.3
Paillard, F.4
Brissot, P.5
Deugnier, Y.6
-
14
-
-
0032692722
-
Insulin resistance-associated hepatic iron overload
-
Mendler MH, Turlin B, Moirand R, Jouanolle AM, Sapey T, Guyader D, et al. Insulin resistance-associated hepatic iron overload. Gastroenterology 1999;117:1155-63.
-
(1999)
Gastroenterology
, vol.117
, pp. 1155-1163
-
-
Mendler, M.H.1
Turlin, B.2
Moirand, R.3
Jouanolle, A.M.4
Sapey, T.5
Guyader, D.6
-
15
-
-
0031975341
-
A point mutation in the bulge of the iron responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome
-
Marin ME, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the iron responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood 1998;91:319-23.
-
(1998)
Blood
, vol.91
, pp. 319-323
-
-
Marin, M.E.1
Fargion, S.2
Brissot, P.3
Pellat, B.4
Beaumont, C.5
-
16
-
-
0015228412
-
Measurement of liver-iron concentration in needle-biopsy specimens
-
Barry M, Sherlock S. Measurement of liver-iron concentration in needle-biopsy specimens. Lancet 1971;1:100-3.
-
(1971)
Lancet
, vol.1
, pp. 100-103
-
-
Barry, M.1
Sherlock, S.2
-
17
-
-
0026601599
-
Liver pathology in genetic hemochromatosis: A review of 135 homozygous cases and their bioclinical correlations
-
Deugnier YM, Loréal O, Turlin B, Guyader D, Jouanolle H, Moirand R, et al. Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 1992;102:2050-9.
-
(1992)
Gastroenterology
, vol.102
, pp. 2050-2059
-
-
Deugnier, Y.M.1
Loréal, O.2
Turlin, B.3
Guyader, D.4
Jouanolle, H.5
Moirand, R.6
-
18
-
-
18344401294
-
Multicentric origin of hemochromatosis gene (HFE) mutations
-
Rochette J, Pointon JJ, Fischer CA, Perera G, Arambepola M, Kodikara DS. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-62.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1056-1062
-
-
Rochette, J.1
Pointon, J.J.2
Fischer, C.A.3
Perera, G.4
Arambepola, M.5
Kodikara, D.S.6
-
19
-
-
0033597780
-
Molecular cloning of transferrin receptor 2, a new member of the transferring receptor-like family
-
Kawabata H, Yang R, Hirama T, Vuong PT, Kawano S, Gombart AF, et al. Molecular cloning of transferrin receptor 2, a new member of the transferring receptor-like family. J Biol Chem 1999;274:20826-32.
-
(1999)
J Biol Chem
, vol.274
, pp. 20826-20832
-
-
Kawabata, H.1
Yang, R.2
Hirama, T.3
Vuong, P.T.4
Kawano, S.5
Gombart, A.F.6
-
20
-
-
0026760920
-
Glycine and branched residues support and modulate peptide helicity in membrane environments
-
Li SC, Deber CM. Glycine and branched residues support and modulate peptide helicity in membrane environments. FEBS Lett 1992;311:217-20.
-
(1992)
FEBS Lett
, vol.311
, pp. 217-220
-
-
Li, S.C.1
Deber, C.M.2
-
21
-
-
0033517341
-
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
-
Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999;341:725-32.
-
(1999)
N Engl J Med
, vol.341
, pp. 725-732
-
-
Pietrangelo, A.1
Montosi, G.2
Totaro, A.3
Garuti, C.4
Conte, D.5
Cassanelli, S.6
-
22
-
-
0037100517
-
Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
-
Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-4.
-
(2002)
Blood
, vol.100
, pp. 692-694
-
-
Wallace, D.F.1
Pedersen, P.2
Dixon, J.L.3
Stephenson, P.4
Searle, J.W.5
Powell, L.W.6
-
23
-
-
0037100382
-
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
-
Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-7.
-
(2002)
Blood
, vol.100
, pp. 695-697
-
-
Devalia, V.1
Carter, K.2
Walker, A.P.3
Perkins, S.J.4
Worwood, M.5
May, A.6
-
24
-
-
0037100383
-
A valine deletion of ferroportin 1: A common mutation in hemochromatosis type 4?
-
Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, et al. A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4? Blood 2002;100:733-4.
-
(2002)
Blood
, vol.100
, pp. 733-734
-
-
Roetto, A.1
Merryweather-Clarke, A.T.2
Daraio, F.3
Livesey, K.4
Pointon, J.J.5
Barbabietola, G.6
-
25
-
-
0032817780
-
Helix packing in polytopic membrane proteins: Role of glycine in transmembrane helix association
-
Javadpour MM, Eilers M, Goesbeek M, Smith SO. Helix packing in polytopic membrane proteins: role of glycine in transmembrane helix association. Biophys J 1999;77:1609-18.
-
(1999)
Biophys J
, vol.77
, pp. 1609-1618
-
-
Javadpour, M.M.1
Eilers, M.2
Goesbeek, M.3
Smith, S.O.4
-
26
-
-
0034883373
-
Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function, gain in understanding
-
Fleming RE, Sly WS. Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding. J Clin Invest 2001;108:521-2.
-
(2001)
J Clin Invest
, vol.108
, pp. 521-522
-
-
Fleming, R.E.1
Sly, W.S.2
|