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Journal Abstract Search

171 related items for PubMed ID: 27667161

  • 1. 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; 61():10-5. PubMed ID: 27667161
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  • 2. 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; 91(4):420-5. PubMed ID: 26799139
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  • 3. 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; 55(1):71-5. PubMed ID: 25976471
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  • 7. Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
    Santos PCJL, Krieger JE, Pereira AC.
    Int J Mol Sci; 2012 Jun; 13(2):1497-1511. PubMed ID: 22408404
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  • 8. 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; 73():14-21. PubMed ID: 30195625
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  • 9. 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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  • 17. Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
    Ravasi G, Pelucchi S, Bertola F, Capelletti MM, Mariani R, Piperno A.
    Genes (Basel); 2021 Nov 09; 12(11):. PubMed ID: 34828384
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  • 18. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.
    Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF.
    Blood Cells Mol Dis; 2001 Nov 09; 27(1):290-3. PubMed ID: 11358390
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  • 20. New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
    Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M.
    Genes (Basel); 2021 Dec 13; 12(12):. PubMed ID: 34946929
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