-
2
-
-
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, et al. 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
-
3
-
-
0012557260
-
Genética de las sobrecargas férricas
-
Zúñiga A, Orera MA. Genética de las sobrecargas férricas. An Med Interna 2002; 19: 195-201.
-
(2002)
An. Med. Interna.
, vol.19
, pp. 195-201
-
-
Zúñiga, A.1
Orera, M.A.2
-
4
-
-
4544327324
-
Genética de las sobrecargas y el síndrome congénito de hiperferritinemia y cataratas
-
García-Herce JA, Salvador C. Genética de las sobrecargas y el síndrome congénito de hiperferritinemia y cataratas. An Med Interna 2003: 20: 57-8.
-
(2003)
An. Med. Interna.
, vol.20
, pp. 57-58
-
-
García-Herce, J.A.1
Salvador, C.2
-
5
-
-
0029148586
-
A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract
-
Girelli D, Olivieri O, de Franceschi L, Corrocher R, Bergamaschi G, Cazzola M. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Brit J Haematol 1995; 90: 931-4.
-
(1995)
Brit. J. Haematol.
, vol.90
, pp. 931-934
-
-
Girelli, D.1
Olivieri, O.2
de Franceschi, L.3
Corrocher, R.4
Bergamaschi, G.5
Cazzola, M.6
-
6
-
-
0028881134
-
Mutation in the iron responsive element of the L-ferritin mRNA in a family with dominant hyperferritinaemia and cataract
-
Beaumont C, Leneuve P, Devaux I, Scoazec J-Y, Berthier M, Loiseau M-N, et al. Mutation in the iron responsive element of the L-ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nature Genet 1995; 11: 444-6.
-
(1995)
Nature Genet.
, vol.11
, pp. 444-446
-
-
Beaumont, C.1
Leneuve, P.2
Devaux, I.3
Scoazec, J.-Y.4
Berthier, M.5
Loiseau, M.-N.6
-
7
-
-
0035725363
-
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinemia-cataract syndrome
-
Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinemia-cataract syndrome. Brit J Haematol 2001; 115: 334-40.
-
(2001)
Brit. J. Haematol.
, vol.115
, pp. 334-340
-
-
Girelli, D.1
Bozzini, C.2
Zecchina, G.3
Tinazzi, E.4
Bosio, S.5
Piperno, A.6
-
8
-
-
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: 1904-10.
-
(2003)
Blood
, vol.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
Grandchamp, B.4
Beaumont, C.5
-
9
-
-
0034448308
-
Hiperferritinemia aislada en un lactante sano: Síndrome hereditario de hiperferritinemia y cataratas
-
(Errata 2000; 52: 568)
-
Cervera A, Sebastián M, Alarabe A, Díez A, Avilés MJ, Balas A. Hiperferritinemia aislada en un lactante sano: sí ndrome hereditario de hiperferritinemia y cataratas. An Esp Pediatr 2000; 52: 267-70. (Errata 2000; 52: 568).
-
(2000)
An. Esp. Pediatr.
, vol.52
, pp. 267-270
-
-
Cervera, A.1
Sebastián, M.2
Alarabe, A.3
Díez, A.4
Avilés, M.J.5
Balas, A.6
-
10
-
-
0035090726
-
Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family
-
Pérez de Nanclares G, Castaño L, Martul P, Rica I, Vela A, Sanjurjo P, et al. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family. J Pediatr Endocrinol Metab 2001; 14: 295-300.
-
(2001)
J. Pediatr. Endocrinol. Metab.
, vol.14
, pp. 295-300
-
-
Pérez de Nanclares, G.1
Castaño, L.2
Martul, P.3
Rica, I.4
Vela, A.5
Sanjurjo, P.6
-
11
-
-
0036049805
-
Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations
-
McLeod JL, Craig J, Gumley S, Roberts S, Kirkland MA. Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. Brit J Haematol 2002; 118: 1179-82.
-
(2002)
Brit. J. Haematol.
, vol.118
, pp. 1179-1182
-
-
McLeod, J.L.1
Craig, J.2
Gumley, S.3
Roberts, S.4
Kirkland, M.A.5
-
12
-
-
0033151541
-
Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family
-
Balas A, Avilés MJ, García-Sánchez F, Vicario JL, Cervera A. Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. Blood 1999; 93: 4020-1.
-
(1999)
Blood
, vol.93
, pp. 4020-4021
-
-
Balas, A.1
Avilés, M.J.2
García-Sánchez, F.3
Vicario, J.L.4
Cervera, A.5
-
13
-
-
1842457991
-
Hyperferritinemia-cataract syndrome
-
Online Mendelian Inheritance in Man (OMIM). 600886
-
Online Mendelian Inheritance in Man (OMIM). 600886: Hyperferritinemia-cataract syndrome. http://www.ncbi.nlm.nih.gov/omim/
-
-
-
-
14
-
-
0346950276
-
Pathogenesis of hyperferritinemia cataract syndrome
-
Roetto A, Bosio S, Gramaglia E, Barilaro MR, Zecchina G, Camaschella C. Pathogenesis of hyperferritinemia cataract syndrome. Blood Cells Mol Dis 2002; 29: 532-5.
-
(2002)
Blood Cells Mol. Dis.
, vol.29
, pp. 532-535
-
-
Roetto, A.1
Bosio, S.2
Gramaglia, E.3
Barilaro, M.R.4
Zecchina, G.5
Camaschella, C.6
-
15
-
-
0032100487
-
Analysis of ferritins in lymphoblastoid cell lines and in the lens in subjects with hereditary hyperferritinemia-cataract syndrome
-
Levi S, Girelli D, Perrone F, Pasti M, Beaumont C, Corrocher R, et al. Analysis of ferritins in lymphoblastoid cell lines and in the lens in subjects with hereditary hyperferritinemia-cataract syndrome. Blood 1998; 91: 4180-7.
-
(1998)
Blood
, vol.91
, pp. 4180-4187
-
-
Levi, S.1
Girelli, D.2
Perrone, F.3
Pasti, M.4
Beaumont, C.5
Corrocher, R.6
-
16
-
-
0037608695
-
Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract
-
Bozzini C, Galbiati S, Tinazzi E, Aldigeri R, De Matteis G, Girelli D. Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract. Hematologica 2003; 88: 219-20.
-
(2003)
Hematologica
, vol.88
, pp. 219-220
-
-
Bozzini, C.1
Galbiati, S.2
Tinazzi, E.3
Aldigeri, R.4
De Matteis, G.5
Girelli, D.6
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