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Journal Abstract Search

172 related items for PubMed ID: 26849797

  • 1. 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; 37(3):318-22. PubMed ID: 26849797
    [Abstract] [Full Text] [Related]

  • 2. FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.
    Ferro E, Capra AP, Zirilli G, Meduri A, Urso M, Briuglia S, La Rosa MA.
    Pediatr Dev Pathol; 2018 Sep; 21(5):456-460. PubMed ID: 29426274
    [Abstract] [Full Text] [Related]

  • 3. Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia.
    Tsantoula F, Kioumi A, Germenis AE, Speletas M.
    J Pediatr Hematol Oncol; 2014 Jul; 36(5):e304-6. PubMed ID: 24983587
    [Abstract] [Full Text] [Related]

  • 4. 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; 223(6):346-51. PubMed ID: 22020773
    [Abstract] [Full Text] [Related]

  • 5. 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 Nov; 38(2):171-174. PubMed ID: 27096259
    [Abstract] [Full Text] [Related]

  • 6. 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; 87(3):274-8. PubMed ID: 21410535
    [Abstract] [Full Text] [Related]

  • 7. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
    Yang Y, Lin T, Kuang P, Chen X.
    Hematology; 2021 Dec; 26(1):896-903. PubMed ID: 34789084
    [Abstract] [Full Text] [Related]

  • 8. Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.
    Shekunov J, de Groen PC, Lindor NM, Klee GG, Aleff RA, Wieben ED, Mohney BG.
    J AAPOS; 2011 Aug; 15(4):356-61. PubMed ID: 21907119
    [Abstract] [Full Text] [Related]

  • 9. [Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study].
    Del Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, Méndez M, Morán-Jiménez MJ.
    Med Clin (Barc); 2011 Jun 11; 137(2):68-72. PubMed ID: 21524769
    [Abstract] [Full Text] [Related]

  • 10. Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.
    Yin D, Kulhalli V, Walker AP.
    Hepatology; 2014 Mar 11; 59(3):1204-6. PubMed ID: 24003015
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Hereditary hyperferritinaemia-cataract syndrome (HHCS) - an underestimated condition: ferritin light chain variant spectrum in German families.
    Volkmann M, Richter R, Herrmann T, Hentze S, Hör M, Hasche H, Selle B, Stremmel W, Gehrke SG.
    Clin Chem Lab Med; 2019 Nov 26; 57(12):1837-1845. PubMed ID: 31211687
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. [Hereditary hyperferritinemia syndrome and cataract].
    Feys J, Nodarian M, Aygalenq P, Cattan D, Bouccara AS, Beaumont C.
    J Fr Ophtalmol; 2001 Oct 21; 24(8):847-50. PubMed ID: 11894536
    [Abstract] [Full Text] [Related]

  • 15. A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.
    Mattila RM, Sainio A, Järveläinen M, Pursiheimo J, Järveläinen H.
    Acta Ophthalmol; 2018 Feb 21; 96(1):95-99. PubMed ID: 28636169
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. [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]

  • 18. [Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")].
    García Erce JA, Cortés T, Cremonesi L, Cazzola M, Pérez-Lungmus G, Giralt M.
    Med Clin (Barc); 2006 Jun 10; 127(2):55-8. PubMed ID: 16900584
    [Abstract] [Full Text] [Related]

  • 19. [Hereditary hyperferritinemia cataracts syndrome in a Spanish family caused by the A40G mutation (Paris) in the L-ferritin (FTL) gene associated with the mutation H63D in the HFE gene].
    Del Castillo Rueda A, Fernández Ruano ML.
    Med Clin (Barc); 2007 Sep 29; 129(11):414-7. PubMed ID: 17927936
    [Abstract] [Full Text] [Related]

  • 20. [Hereditary hyperferritinemia cataract syndrome].
    Holzgreve H.
    Dtsch Med Wochenschr; 2011 Sep 29; 136(38):1895-8. PubMed ID: 21915803
    [Abstract] [Full Text] [Related]

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