-
1
-
-
0345185993
-
-
Online Mendelian Inheritance in Man (OMIM), 600886 Hyperferritinemia-cataract syndrome. Available at: http://www.library.adelaide.edu.au/cgi-bin/director?id=1302940. Accessed September 12, 2002.
-
600886 Hyperferritinemia-Cataract Syndrome
-
-
-
2
-
-
0028788201
-
Molecular basis for recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
-
Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood. 1995;86:4050-4053.
-
(1995)
Blood
, vol.86
, pp. 4050-4053
-
-
Girelli, D.1
Corrocher, R.2
Bisceglia, L.3
-
3
-
-
0028881134
-
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinemia and cataract
-
Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinemia and cataract. Nat Genet. 1995;11:444-446.
-
(1995)
Nat Genet
, vol.11
, pp. 444-446
-
-
Beaumont, C.1
Leneuve, P.2
Devaux, I.3
-
4
-
-
0029156805
-
Bilateral cataract and high serum ferritin: A dominant genetic disorder?
-
Bonneau D, Winter-Fuseay I, Lousean MN, et al. Bilateral cataract and high serum ferritin: a dominant genetic disorder? J Med Genet. 1995;32:778-779.
-
(1995)
J Med Genet
, vol.32
, pp. 778-779
-
-
Bonneau, D.1
Winter-Fuseay, I.2
Lousean, M.N.3
-
5
-
-
0028302080
-
Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4 adjacent to ETFB
-
Lieualla K, Christensa M, Brandriff B, Church R, Wang J, Lennon G. Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4 adjacent to ETFB. Somat Cell Mol Genet. 1994;20:67-69.
-
(1994)
Somat Cell Mol Genet
, vol.20
, pp. 67-69
-
-
Lieualla, K.1
Christensa, M.2
Brandriff, B.3
Church, R.4
Wang, J.5
Lennon, G.6
-
6
-
-
0035725363
-
Clincial, biochemical and molecular findings in a series of families with hereditary hyperferritinemia-cataract syndrome
-
Girelli D, Bozzinic C, Zecchina G, et al. Clincial, biochemical and molecular findings in a series of families with hereditary hyperferritinemia-cataract syndrome. Br J Haematol. 2001;115:334-340.
-
(2001)
Br J Haematol
, vol.115
, pp. 334-340
-
-
Girelli, D.1
Bozzinic, C.2
Zecchina, G.3
-
7
-
-
0036049805
-
Mutation spectrum in Australian pedigrees with hereditary hyperferritinemia-cataract syndrome reveals novel and de novo mutations
-
McLeod J, Craig J, Gumley S, Roberts S, Kirkland MA. Mutation spectrum in Australian pedigrees with hereditary hyperferritinemia-cataract syndrome reveals novel and de novo mutations. Br J Haematol. 2002;118:1179-1182.
-
(2002)
Br J Haematol
, vol.118
, pp. 1179-1182
-
-
McLeod, J.1
Craig, J.2
Gumley, S.3
Roberts, S.4
Kirkland, M.A.5
-
8
-
-
0036183225
-
A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinemia-cataract syndrome
-
Cazzola M, Foglieni B, Bergamaschi G, Levi S, Lazzarino M, Arosio P A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinemia-cataract syndrome. Br J Haematol. 2002;116:667-670.
-
(2002)
Br J Haematol
, vol.116
, pp. 667-670
-
-
Cazzola, M.1
Foglieni, B.2
Bergamaschi, G.3
Levi, S.4
Lazzarino, M.5
Arosio, P.6
-
9
-
-
0033543569
-
Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome
-
Allerson CR, Cazzola M, Rouault TA. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. J Biol Chem. 1999;274:26439-26447.
-
(1999)
J Biol Chem
, vol.274
, pp. 26439-26447
-
-
Allerson, C.R.1
Cazzola, M.2
Rouault, T.A.3
-
10
-
-
0033055320
-
Hereditary hyperferritinemia cataract syndrome: A de novo mutation in the iron responsive element of the L-ferritin gene
-
Arosio C, Fossati L, Vigano M, Trombini P, Cazzaniga G, Piperno A. Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. Haematologica. 1999;84:560-561.
-
(1999)
Haematologica
, vol.84
, pp. 560-561
-
-
Arosio, C.1
Fossati, L.2
Vigano, M.3
Trombini, P.4
Cazzaniga, G.5
Piperno, A.6
-
11
-
-
0034117221
-
A new mutation (G51 C) in the iron-responsive element (IRE) of ferritin associated with hyperferritinemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron regulatory protein
-
Camaschella C, Zecchina G, Lockitch-Roetto A, Campanella A, Arosio P, Levi S. A new mutation (G51 C) in the iron-responsive element (IRE) of ferritin associated with hyperferritinemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron regulatory protein. Br J Haematol. 2000;108:480-482.
-
(2000)
Br J Haematol
, vol.108
, pp. 480-482
-
-
Camaschella, C.1
Zecchina, G.2
Lockitch-Roetto, A.3
Campanella, A.4
Arosio, P.5
Levi, S.6
-
12
-
-
0035103330
-
Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: Identification of the new mutation C14G
-
Cremonesi L, Fumagalli A, Sonani N, et al. Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G. Clin Chem. 2001;47:491-497.
-
(2001)
Clin Chem
, vol.47
, pp. 491-497
-
-
Cremonesi, L.1
Fumagalli, A.2
Sonani, N.3
-
13
-
-
0035142812
-
A potential etiology of elevated ferritin: Hyperferritinemia-cataract syndrome
-
Durupt S, Durieu I, Salles B, et al. A potential etiology of elevated ferritin: hyperferritinemia-cataract syndrome. Rev Med Interne. 2001;22:83-85.
-
(2001)
Rev Med Interne
, vol.22
, pp. 83-85
-
-
Durupt, S.1
Durieu, I.2
Salles, B.3
-
14
-
-
0032995924
-
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperterritinemia-cataract syndrome
-
Cicilano M, Cicilano M, Zecchina G, et al. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperterritinemia-cataract syndrome. Haematologica. 1999;84:489-492.
-
(1999)
Haematologica
, vol.84
, pp. 489-492
-
-
Cicilano, M.1
Cicilano, M.2
Zecchina, G.3
-
15
-
-
0003217939
-
L-ferritin-Baltimore-1: A novel mutation in the iron responsive element (C32G) as a cause of the hyperferritinemia-cataract syndrome
-
Kato GJ, Casella F. L-ferritin-Baltimore-1: a novel mutation in the iron responsive element (C32G) as a cause of the hyperferritinemia-cataract syndrome [abstract]. Blood. 1999;94:407A.
-
(1999)
Blood
, vol.94
-
-
Kato, G.J.1
Casella, F.2
-
16
-
-
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
-
Martin 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;91:319-323.
-
(1998)
Blood
, vol.91
, pp. 319-323
-
-
Martin, M.E.1
Fargion, S.2
Brissot, P.3
Pellat, B.4
Beaumont, C.5
-
17
-
-
0036202905
-
Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome
-
Brooks DG, Manova-Todorova K, Farmer J, et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci. 2002; 43:1121-1126.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1121-1126
-
-
Brooks, D.G.1
Manova-Todorova, K.2
Farmer, J.3
-
18
-
-
0031965464
-
Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
-
Mumford A, Vullimy T, Lindsay J, Watson A. Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. Blood. 1998;91:367-368.
-
(1998)
Blood
, vol.91
, pp. 367-368
-
-
Mumford, A.1
Vullimy, T.2
Lindsay, J.3
Watson, A.4
-
19
-
-
0032100487
-
Analysis of ferritin in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome
-
Levi S, Grielli O, Perrone F, et al. Analysis of ferritin in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. Blood. 1998;91:4180-4187.
-
(1998)
Blood
, vol.91
, pp. 4180-4187
-
-
Levi, S.1
Grielli, O.2
Perrone, F.3
-
20
-
-
0034755009
-
Lens changes in hereditary hyperferritinemia-cataract syndrome
-
Chang-Godinich A, Ades S, Schenkein D, Brooks D, Stambolian D, Raizman MB. Lens changes in hereditary hyperferritinemia-cataract syndrome. Am J Ophthalmol. 2001;132:786-788.
-
(2001)
Am J Ophthalmol
, vol.132
, pp. 786-788
-
-
Chang-Godinich, A.1
Ades, S.2
Schenkein, D.3
Brooks, D.4
Stambolian, D.5
Raizman, M.B.6
-
21
-
-
0036290184
-
Aetiology of congenital and pediatric cataract in an Australian population
-
Wirth GM, Russell-Eggit IM, Craig JE, Elder JE, Mackey DA. Aetiology of congenital and pediatric cataract in an Australian population. Br J Ophthalmol. 2002; 86:782-786.
-
(2002)
Br J Ophthalmol
, vol.86
, pp. 782-786
-
-
Wirth, G.M.1
Russell-Eggit, I.M.2
Craig, J.E.3
Elder, J.E.4
Mackey, D.A.5
-
22
-
-
0035134952
-
Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome
-
Giansily M, Beaumont C, Desveaux C, Hetet G, Schved JF, Aguilar-Martinez P. Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome. Br J Haematol. 2001:112:51-54.
-
(2001)
Br J Haematol
, vol.112
, pp. 51-54
-
-
Giansily, M.1
Beaumont, C.2
Desveaux, C.3
Hetet, G.4
Schved, J.F.5
Aguilar-Martinez, P.6
-
23
-
-
0034603356
-
Hereditary hyperferritinemia-cataract syndrome: Does it really exist in Switzerland?
-
Rosochova J, Kapetanios A, Pournaras C, et al. Hereditary hyperferritinemia-cataract syndrome: does it really exist in Switzerland? Schweiz Med Wochenschr. 2001;130:324-328.
-
(2001)
Schweiz Med Wochenschr
, vol.130
, pp. 324-328
-
-
Rosochova, J.1
Kapetanios, A.2
Pournaras, C.3
-
24
-
-
26744438965
-
Hereditary hyperferritinemia-cataract syndrome: Phenotype in a large Australian pedigree and identification of responsible mutation in the iron responsive element of ferritin light chain gene
-
Abstract 2475
-
Craig JE, Gumley S, Kirkland MA, et al. Hereditary hyperferritinemia-cataract syndrome: phenotype in a large Australian pedigree and identification of responsible mutation in the iron responsive element of ferritin light chain gene [ARVO abstract] Invest Ophthalmol Vis Sci. 2001;42:S459. Abstract 2475.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
-
-
Craig, J.E.1
Gumley, S.2
Kirkland, M.A.3
-
25
-
-
0030811101
-
Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron responsive element of ferritin light chain mRNA
-
Cazzola M, Bergamschi G, Tonon L, et al. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron responsive element of ferritin light chain mRNA. Blood. 1997;90:814-821
-
(1997)
Blood
, vol.90
, pp. 814-821
-
-
Cazzola, M.1
Bergamschi, G.2
Tonon, L.3
-
26
-
-
0002079053
-
Molecular genetics of hereditary cataract-hyperferritinemia syndrome
-
Milon B, Beaumont C. Molecular genetics of hereditary cataract-hyperferritinemia syndrome. Ann Biol Clin (Paris). 1998;56:36-40.
-
(1998)
Ann Biol Clin (Paris)
, vol.56
, pp. 36-40
-
-
Milon, B.1
Beaumont, C.2
|