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Volumn 30, Issue 2, 2007, Pages 281-285

Hereditary syndrome of hyperferritinemia and cataract;Síndrome hereditario de hiperferritinemia y catarata

Author keywords

Cataract; Hereditary syndrome; Hyperferritinemia

Indexed keywords

FERRITIN; IRON REGULATORY FACTOR;

EID: 36148999461     PISSN: 11376627     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (11)
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    • GIRELLI D, OLIVIERI O, DE FRANCESCHI L, CORROCHER R, BERGAMASCHI G, CAZZOLA M. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995; 90: 931-934.
    • (1995) Br 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
  • 3
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    • BEAUMONT C, LENEUVE P, DEVAUX I, SCOACEC ZY, BETHIER M, LOISEAU MN 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    SCOACEC, Z.Y.4    BETHIER, M.5    LOISEAU, M.N.6
  • 4
    • 0032100487 scopus 로고    scopus 로고
    • Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome
    • LEVI S, GIRELLI D, PERRONE F, PASTI M, BEAUMOUNT C, CORROCHER R et al. Analysis of ferritins 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    GIRELLI, D.2    PERRONE, F.3    PASTI, M.4    BEAUMOUNT, C.5    CORROCHER, R.6
  • 6
    • 0033932963 scopus 로고    scopus 로고
    • The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin
    • MUMFORD AD, CREE IA, ARNOLD JD, HAGAN MC, RIXON KC, HARDING JJ. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. Br J Ophthalmol 2000; 84: 697-700.
    • (2000) Br J Ophthalmol , vol.84 , pp. 697-700
    • MUMFORD, A.D.1    CREE, I.A.2    ARNOLD, J.D.3    HAGAN, M.C.4    RIXON, K.C.5    HARDING, J.J.6
  • 7
    • 33645553357 scopus 로고    scopus 로고
    • Hereditary hiperferritinemia cataract syndrome: Ocular, genetic, and biochemical findings
    • ISMAIL AR, LACHLAN KL, MUMFORD AD, TEMPLE IK, HODGKINS PR. Hereditary hiperferritinemia cataract syndrome: Ocular, genetic, and biochemical findings. Eur J Ophthalmol 2006; 16: 153-160.
    • (2006) Eur J Ophthalmol , vol.16 , pp. 153-160
    • ISMAIL, A.R.1    LACHLAN, K.L.2    MUMFORD, A.D.3    TEMPLE, I.K.4    HODGKINS, P.R.5
  • 8
    • 0031965464 scopus 로고    scopus 로고
    • Hereditary hiperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron responsive element
    • MUMFORD AD, VULLIAMY T, LINDSAY J, WATSON A. Hereditary hiperferritinemia-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.D.1    VULLIAMY, T.2    LINDSAY, J.3    WATSON, A.4
  • 9
    • 0035725363 scopus 로고    scopus 로고
    • 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. Br J Haematol 2001; 115: 334-340.
    • (2001) Br 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
  • 10
    • 0344305685 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome. Prevalence, lens morphology spectrum of mutations, and clinical presentations
    • CRAIG JE, CLARK JB, MCLEOD JL, KIRKLAND MA, GRANT G, ELDER JE et al. Hereditary hyperferritinemia-cataract syndrome. Prevalence, lens morphology spectrum of mutations, and clinical presentations. Arch Ophthalmol 2003; 121: 1753-1761.
    • (2003) Arch Ophthalmol , vol.121 , pp. 1753-1761
    • CRAIG, J.E.1    CLARK, J.B.2    MCLEOD, J.L.3    KIRKLAND, M.A.4    GRANT, G.5    ELDER, J.E.6
  • 11
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    • CAZZOLA M, BERGAMASCHI G, TONON L, ARBUSTINE E, GRASO M, VERCESI E 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    BERGAMASCHI, G.2    TONON, L.3    ARBUSTINE, E.4    GRASO, M.5    VERCESI, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.