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Journal Abstract Search

187 related items for PubMed ID: 9378401

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  • 24. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.
    Millonig G, Muckenthaler MU, Mueller S.
    Hum Genomics; 2010 Apr; 4(4):250-62. PubMed ID: 20511138
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  • 26. Hyperferritinaemia not always a sign of iron overload.
    Loffeld RJ.
    Acta Gastroenterol Belg; 2007 Apr; 70(4):360-2. PubMed ID: 18330093
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  • 27. Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain.
    Ladero JM, Balas A, García-Sánchez F, Vicario JL, Díaz-Rubio M.
    Rev Esp Enferm Dig; 2004 Jul; 96(7):507-9, 510-1. PubMed ID: 15283633
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  • 28. A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.
    Camaschella C, Zecchina G, Lockitch G, Roetto A, Campanella A, Arosio P, Levi S.
    Br J Haematol; 2000 Mar; 108(3):480-2. PubMed ID: 10759702
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  • 29. Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.
    Van de Sompele S, Pécheux L, Couso J, Meunier A, Sanchez M, De Baere E.
    Sci Rep; 2017 Dec 21; 7(1):18025. PubMed ID: 29269865
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  • 30. Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
    Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Morán É, Muckenthaler MU, Sánchez M.
    Orphanet J Rare Dis; 2013 Feb 19; 8():30. PubMed ID: 23421845
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  • 35. Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.
    Cosentino I, Zeri F, Swann PG, Majore S, Radio FC, Palumbo P, Grammatico P, Petitti V.
    Ophthalmic Genet; 2016 Sep 19; 37(3):318-22. PubMed ID: 26849797
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  • 39. Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
    Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M.
    Int J Mol Sci; 2021 May 21; 22(11):. PubMed ID: 34064225
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  • 40. Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
    Yazar S, Franchina M, Craig JE, Burdon KP, Mackey DA.
    Ophthalmic Genet; 2017 May 21; 38(2):171-174. PubMed ID: 27096259
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