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258 related items for PubMed ID: 34583728

  • 1. Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
    Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, Wu Z, Wu L, Li S, Wang X, Zhao X, Wang Q, Li M, Wang Y, You H, Huang J, Ou X, Jia J.
    Orphanet J Rare Dis; 2021 Sep 28; 16(1):398. PubMed ID: 34583728
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  • 2. Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
    Lv T, Zhang W, Xu A, Li Y, Zhou D, Zhang B, Li X, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Xu H, Zheng J, Zhao R, Zhu L, Dong Y, Lu L, Chen Y, Long J, Zheng S, Wang W, You H, Jia J, Ou X, Huang J.
    J Med Genet; 2018 Oct 28; 55(10):650-660. PubMed ID: 30166352
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  • 3. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
    Santos PC, Cançado RD, Pereira AC, Schettert IT, Soares RA, Pagliusi RA, Hirata RD, Hirata MH, Teixeira AC, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.
    Blood Cells Mol Dis; 2011 Apr 15; 46(4):302-7. PubMed ID: 21411349
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  • 7. The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
    Wallace DF, Subramaniam VN.
    Genet Med; 2016 Jun 15; 18(6):618-26. PubMed ID: 26633544
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  • 9. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
    Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P.
    Blood Cells Mol Dis; 2015 Jun 15; 55(1):71-5. PubMed ID: 25976471
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  • 11. Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
    Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D.
    Am J Hematol; 2016 Jun 15; 91(4):420-5. PubMed ID: 26799139
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  • 12. Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
    Faria R, Silva B, Silva C, Loureiro P, Queiroz A, Fraga S, Esteves J, Mendes D, Fleming R, Vieira L, Gonçalves J, Faustino P.
    Blood Cells Mol Dis; 2016 Oct 15; 61():10-5. PubMed ID: 27667161
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  • 13. Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.
    Dhillon BK, Chopra G, Jamwal M, Chandak GR, Duseja A, Malhotra P, Chawla YK, Garewal G, Das R.
    Blood Cells Mol Dis; 2018 Nov 15; 73():14-21. PubMed ID: 30195625
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  • 15. Non-HFE hemochromatosis.
    Santos PC, Dinardo CL, Cançado RD, Schettert IT, Krieger JE, Pereira AC.
    Rev Bras Hematol Hemoter; 2012 Nov 15; 34(4):311-6. PubMed ID: 23049448
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  • 16. Hepatic iron metabolism gene expression profiles in HFE associated hereditary hemochromatosis.
    Gleeson F, Ryan E, Barrett S, Russell J, Crowe J.
    Blood Cells Mol Dis; 2007 Nov 15; 38(1):37-44. PubMed ID: 17098454
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  • 19. Hereditary hemochromatosis: An update vision of the laboratory diagnosis.
    Molina CA, Ros NG, Tarancón RG, Varas LR, Flores VR, Álvarez SI.
    J Trace Elem Med Biol; 2023 Jul 15; 78():127194. PubMed ID: 37163822
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  • 20. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
    Hamdi-Rozé H, Beaumont-Epinette MP, Ben Ali Z, Le Lan C, Loustaud-Ratti V, Causse X, Loreal O, Deugnier Y, Brissot P, Jouanolle AM, Bardou-Jacquet E.
    Am J Hematol; 2016 Dec 15; 91(12):1202-1205. PubMed ID: 27518069
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