BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 11703332)

  • 1. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
    Girelli D; Bozzini C; Zecchina G; Tinazzi E; Bosio S; Piperno A; Ramenghi U; Peters J; Levi S; Camaschella C; Corrocher R
    Br J Haematol; 2001 Nov; 115(2):334-40. PubMed ID: 11703332
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.
    Ferrante M; Geubel AP; Fevery J; Marogy G; Horsmans Y; Nevens F
    Eur J Gastroenterol Hepatol; 2005 Nov; 17(11):1247-53. PubMed ID: 16215440
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 44(1):22-7. PubMed ID: 19800271
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome.
    Cazzola M; Foglieni B; Bergamaschi G; Levi S; Lazzarino M; Arosio P
    Br J Haematol; 2002 Mar; 116(3):667-70. PubMed ID: 11849230
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.
    McLeod JL; Craig J; Gumley S; Roberts S; Kirkland MA
    Br J Haematol; 2002 Sep; 118(4):1179-82. PubMed ID: 12199804
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 121(12):1753-61. PubMed ID: 14662596
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 34(10):701-8. PubMed ID: 15473895
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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
    Br J Ophthalmol; 2000 Jul; 84(7):697-700. PubMed ID: 10873976
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 84(6):489-92. PubMed ID: 10366790
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenesis of hyperferritinemia cataract syndrome.
    Roetto A; Bosio S; Gramaglia E; Barilaro MR; Zecchina G; Camaschella C
    Blood Cells Mol Dis; 2002; 29(3):532-5. PubMed ID: 12547247
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 90(2):814-21. PubMed ID: 9226182
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.
    Girelli D; Corrocher R; Bisceglia L; Olivieri O; Zelante L; Panozzo G; Gasparini P
    Blood; 1997 Sep; 90(5):2084-8. PubMed ID: 9292547
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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; 61(9):291-5. PubMed ID: 14692443
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome.
    Allerson CR; Cazzola M; Rouault TA
    J Biol Chem; 1999 Sep; 274(37):26439-47. PubMed ID: 10473603
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. 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]  

    [Next]    [New Search]
    of 8.