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Journal Abstract Search

154 related items for PubMed ID: 10226674

  • 1. High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa.
    de Villiers JN, Hillerman R, de Jong G, Langenhoven E, Rossouw H, Marx MP, Kotze MJ.
    S Afr Med J; 1999 Mar; 89(3):279-82. PubMed ID: 10226674
    [Abstract] [Full Text] [Related]

  • 2. Searching for hereditary hemochromatosis.
    Laudicina RJ.
    Clin Lab Sci; 2006 Mar; 19(3):174-83. PubMed ID: 16910235
    [Abstract] [Full Text] [Related]

  • 3. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
    Cadet E, Capron D, Gallet M, Omanga-Léké ML, Boutignon H, Julier C, Robson KJ, Rochette J.
    J Med Genet; 2005 May; 42(5):390-5. PubMed ID: 15863667
    [Abstract] [Full Text] [Related]

  • 4. Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients.
    Potekhina ES, Lavrov AV, Samokhodskaya LM, Efimenko AY, Balatskiy AV, Baev AA, Litvinova MM, Nikitina LA, Shipulin GA, Bochkov NP, Tkachuk VA, Bochkov VN.
    Blood Cells Mol Dis; 2005 May; 35(2):182-8. PubMed ID: 16055358
    [Abstract] [Full Text] [Related]

  • 5. Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.
    Kotze MJ, de Villiers JN, Bouwens CS, Warnich L, Zaahl MG, van der Merwe S, Oberkanins C.
    Clin Genet; 2004 Apr; 65(4):317-21. PubMed ID: 15025725
    [Abstract] [Full Text] [Related]

  • 6. HFE mutations in patients with hereditary haemochromatosis in Sweden.
    Cardoso EM, Stål P, Hagen K, Cabeda JM, Esin S, de Sousa M, Hultcrantz R.
    J Intern Med; 1998 Mar; 243(3):203-8. PubMed ID: 9627157
    [Abstract] [Full Text] [Related]

  • 7. [A new method of molecular testing in the differential diagnosis of hereditary hemochromatosis].
    Andrikovics H, Klein I, Kalmár L, Bors A, Jermendy G, Petri I, Kalász L, Váradi A, Tordai A.
    Orv Hetil; 1999 Nov 07; 140(45):2517-22. PubMed ID: 10586619
    [Abstract] [Full Text] [Related]

  • 8. The significance of haemochromatosis gene mutations in the general population: implications for screening.
    Burt MJ, George PM, Upton JD, Collett JA, Frampton CM, Chapman TM, Walmsley TA, Chapman BA.
    Gut; 1998 Dec 07; 43(6):830-6. PubMed ID: 9824612
    [Abstract] [Full Text] [Related]

  • 9. Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.
    Pozzato G, Zorat F, Nascimben F, Gregorutti M, Comar C, Baracetti S, Vatta S, Bevilacqua E, Belgrano A, Crovella S, Amoroso A.
    Eur J Hum Genet; 2001 Jun 07; 9(6):445-51. PubMed ID: 11436126
    [Abstract] [Full Text] [Related]

  • 10. Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
    Pedersen P, Milman N.
    Ann Hematol; 2009 Aug 07; 88(8):775-84. PubMed ID: 19159930
    [Abstract] [Full Text] [Related]

  • 11. Haemochromatosis mutations in North-East Scotland.
    Miedzybrodzka Z, Loughlin S, Baty D, Terron A, Kelly K, Dean J, Greaves M, Pippard M, Haites N.
    Br J Haematol; 1999 Aug 07; 106(2):385-7. PubMed ID: 10460595
    [Abstract] [Full Text] [Related]

  • 12. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.
    Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE.
    Br J Haematol; 1998 Dec 07; 103(3):842-5. PubMed ID: 9858243
    [Abstract] [Full Text] [Related]

  • 13. Hereditary haemochromatosis mutation frequencies in the general population.
    Bradley LA, Johnson DD, Palomaki GE, Haddow JE, Robertson NH, Ferrie RM.
    J Med Screen; 1998 Dec 07; 5(1):34-6. PubMed ID: 9575458
    [Abstract] [Full Text] [Related]

  • 14. Genetic testing for haemochromatosis in patients with chondrocalcinosis.
    Timms AE, Sathananthan R, Bradbury L, Athanasou NA, Wordsworth BP, Brown MA.
    Ann Rheum Dis; 2002 Aug 07; 61(8):745-7. PubMed ID: 12117686
    [Abstract] [Full Text] [Related]

  • 15. Population screening for hemochromatosis by PCR using sequence-specific primers.
    Guttridge MG, Carter K, Worwood M, Darke C.
    Genet Test; 2000 Aug 07; 4(2):111-4. PubMed ID: 10953948
    [Abstract] [Full Text] [Related]

  • 16. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.
    King C, Barton DE.
    BMC Med Genet; 2006 Nov 29; 7():81. PubMed ID: 17134494
    [Abstract] [Full Text] [Related]

  • 17. Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.
    Pilling LC, Tamosauskaite J, Jones G, Wood AR, Jones L, Kuo CL, Kuchel GA, Ferrucci L, Melzer D.
    BMJ; 2019 Jan 16; 364():k5222. PubMed ID: 30651232
    [Abstract] [Full Text] [Related]

  • 18. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.
    Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T.
    Lancet; 2002 Jan 19; 359(9302):211-8. PubMed ID: 11812557
    [Abstract] [Full Text] [Related]

  • 19. The prevalence of hereditary hemochromatosis in some men from the Eastern part of Turkey and the effects of H63D mutations on iron studies.
    Dulger AC, Esen R, Mete R, Begenik H, Aytemiz E, Tasdemir M, Ebinc S, Aslan M.
    Clin Chem Lab Med; 2012 May 31; 0(0):1-4. PubMed ID: 22718642
    [Abstract] [Full Text] [Related]

  • 20. Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
    Olsson KS, Wålinder O, Jansson U, Wilbe M, Bondeson ML, Stattin EL, Raha-Chowdhury R, Williams R.
    Hereditas; 2017 May 31; 154():16. PubMed ID: 29270100
    [Abstract] [Full Text] [Related]

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