These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

115 related articles for article (PubMed ID: 15223007)

  • 21. Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family.
    Garderet L; Hermelin B; Gorin NC; Rosmorduc O
    Am J Med; 2004 Jul; 117(2):138-9. PubMed ID: 15234655
    [No Abstract]   [Full Text] [Related]  

  • 22. Molecular basis for the 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; Olivieri O; De Franceschi L; Zelante L; Gasparini P
    Blood; 1995 Dec; 86(11):4050-3. PubMed ID: 7492760
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; Beaumont C; Corrocher R; Albertini A; Arosio P
    Blood; 1998 Jun; 91(11):4180-7. PubMed ID: 9596665
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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
    [No Abstract]   [Full Text] [Related]  

  • 26. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [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; 129(11):414-7. PubMed ID: 17927936
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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; 96(1):95-99. PubMed ID: 28636169
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 43(4):1121-6. PubMed ID: 11923255
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 21(5):456-460. PubMed ID: 29426274
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Hereditary hyperferritinaemia/ cataract syndrome.
    Cazzola M
    Best Pract Res Clin Haematol; 2002 Jun; 15(2):385-98. PubMed ID: 12401313
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 28(7):742. PubMed ID: 17579362
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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; 59(3):1204-6. PubMed ID: 24003015
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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; 7(1):18025. PubMed ID: 29269865
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family.
    Pérez de Nanclares G; Castaño L; Martul P; Rica I; Vela A; Sanjurjo P; Aldamiz-Echevarría K; Martínez R; Sarrionandia MJ
    J Pediatr Endocrinol Metab; 2001 Mar; 14(3):295-300. PubMed ID: 11308047
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.
    Ismail AR; Lachlan KL; Mumford AD; Temple IK; Hodgkins PR
    Eur J Ophthalmol; 2006; 16(1):153-60. PubMed ID: 16496261
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 12(10):790-6. PubMed ID: 15280904
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 57(12):1837-1845. PubMed ID: 31211687
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Recent advance in molecular iron metabolism: translational disorders of ferritin.
    Kato J; Niitsu Y
    Int J Hematol; 2002 Oct; 76(3):208-12. PubMed ID: 12416730
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.