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535 related items for PubMed ID: 19800271

  • 1. A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.
    Cao W, McMahon M, Wang B, O'Connor R, Clarkson M.
    Blood Cells Mol Dis; 2010 Jan 15; 44(1):22-7. PubMed ID: 19800271
    [Abstract] [Full Text] [Related]

  • 2. Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE.
    Papanikolaou G, Chandrinou H, Bouzas E, Contopoulos-Ioannidis D, Kalotychou V, Prentzas K, Lilakos K, Asproudis I, Palaiologou D, Premetis E, Papassotiriou I, Sakellaropoulos N.
    Blood Cells Mol Dis; 2006 Jan 15; 36(1):33-40. PubMed ID: 16406710
    [Abstract] [Full Text] [Related]

  • 3. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.
    Cicilano M, Zecchina G, Roetto A, Bosio S, Infelise V, Stefani S, Mazza U, Camaschella C.
    Haematologica; 1999 Jun 15; 84(6):489-92. PubMed ID: 10366790
    [Abstract] [Full Text] [Related]

  • 4. 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 JY, Berthier M, Loiseau MN, Grandchamp B, Bonneau D.
    Nat Genet; 1995 Dec 15; 11(4):444-6. PubMed ID: 7493028
    [Abstract] [Full Text] [Related]

  • 5. [Hereditary hyperferritinemia cataract syndrome--the first family in Germany].
    Millonig G, Holzer MP, Tolle G, Auffarth GU, Muckenthaler MU, Seitz HK, Mueller S.
    Z Gastroenterol; 2009 Dec 15; 47(12):1211. PubMed ID: 19994473
    [Abstract] [Full Text] [Related]

  • 6. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.
    Brooks DG, Manova-Todorova K, Farmer J, Lobmayr L, Wilson RB, Eagle RC, St Pierre TG, Stambolian D.
    Invest Ophthalmol Vis Sci; 2002 Apr 15; 43(4):1121-6. PubMed ID: 11923255
    [Abstract] [Full Text] [Related]

  • 7. A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome.
    Wong K, Barbin Y, Chakrabarti S, Adams P.
    Can J Gastroenterol; 2005 Apr 15; 19(4):253-5. PubMed ID: 15861269
    [Abstract] [Full Text] [Related]

  • 8. Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family.
    Rüfer A, Howell JP, Lange AP, Yamamoto R, Heuscher J, Gregor M, Wuillemin WA.
    Eur J Haematol; 2011 Sep 15; 87(3):274-8. PubMed ID: 21410535
    [Abstract] [Full Text] [Related]

  • 9. Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.
    Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H.
    Klin Padiatr; 2011 Nov 15; 223(6):346-51. PubMed ID: 22020773
    [Abstract] [Full Text] [Related]

  • 10. A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.
    Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE.
    Hum Mutat; 2007 Jul 15; 28(7):742. PubMed ID: 17579362
    [Abstract] [Full Text] [Related]

  • 11. Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.
    Lachlan KL, Temple IK, Mumford AD.
    Eur J Hum Genet; 2004 Oct 15; 12(10):790-6. PubMed ID: 15280904
    [Abstract] [Full Text] [Related]

  • 12. Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C-->T-positive hereditary hyperferritinaemia-cataract syndrome.
    Fritsche-Polanz R, Wallner M, Cohen G, Eberle C, Sunder-Plassmann G, Födinger M.
    Eur J Clin Invest; 2004 Oct 15; 34(10):701-8. PubMed ID: 15473895
    [Abstract] [Full Text] [Related]

  • 13. Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.
    Simsek S, Nanayakkara PW, Keek JM, Faber LM, Bruin KF, Pals G.
    Neth J Med; 2003 Sep 15; 61(9):291-5. PubMed ID: 14692443
    [Abstract] [Full Text] [Related]

  • 14. [Hereditary hyperferritinaemia-cataract syndrome].
    van der Klooster JM.
    Ned Tijdschr Geneeskd; 2003 Sep 27; 147(39):1923-8. PubMed ID: 14560693
    [Abstract] [Full Text] [Related]

  • 15. Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
    Ferrari F, Foglieni B, Arosio P, Camaschella C, Daraio F, Levi S, García Erce JA, Beaumont C, Cazzola M, Ferrari M, Cremonesi L.
    Hum Mutat; 2006 Feb 27; 27(2):201-8. PubMed ID: 16395671
    [Abstract] [Full Text] [Related]

  • 16. Alterations in the interaction between iron regulatory proteins and their iron responsive element in normal and Alzheimer's diseased brains.
    Piñero DJ, Hu J, Connor JR.
    Cell Mol Biol (Noisy-le-grand); 2000 Jun 27; 46(4):761-76. PubMed ID: 10875438
    [Abstract] [Full Text] [Related]

  • 17. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.
    Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi PE, Cairo G, Arosio P.
    Blood; 1997 Jul 15; 90(2):814-21. PubMed ID: 9226182
    [Abstract] [Full Text] [Related]

  • 18. Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.
    Cremonesi L, Foglieni B, Fermo I, Cozzi A, Paroni R, Ruggeri G, Belloli S, Levi S, Fargion S, Ferrari M, Arosio P.
    Haematologica; 2003 Oct 15; 88(10):1110-6. PubMed ID: 14555306
    [Abstract] [Full Text] [Related]

  • 19. 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, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA.
    Arch Ophthalmol; 2003 Dec 15; 121(12):1753-61. PubMed ID: 14662596
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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