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229 related items for PubMed ID: 35668470

  • 1. Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.
    Zhang W, Li Y, Xu A, Ouyang Q, Wu L, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, You H, Huang J, Ou X, Jia J, China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group.
    Orphanet J Rare Dis; 2022 Jun 06; 17(1):216. PubMed ID: 35668470
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 55(10):650-660. PubMed ID: 30166352
    [Abstract] [Full Text] [Related]

  • 4. Defective bone morphogenic protein signaling underlies hepcidin deficiency in HFE hereditary hemochromatosis.
    Ryan JD, Ryan E, Fabre A, Lawless MW, Crowe J.
    Hepatology; 2010 Oct 15; 52(4):1266-73. PubMed ID: 20658468
    [Abstract] [Full Text] [Related]

  • 5. Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).
    Martinelli AL, Filho R, Cruz S, Franco R, Tavella M, Secaf M, Ramalho L, Zucoloto S, Rodrigues S, Zago M.
    Genet Mol Res; 2005 Mar 31; 4(1):31-8. PubMed ID: 15841433
    [Abstract] [Full Text] [Related]

  • 6. HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
    Santos PC, Pereira AC, Cançado RD, Schettert IT, Sobreira TJ, Oliveira PS, Hirata RD, Hirata MH, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.
    Blood Cells Mol Dis; 2010 Dec 15; 45(4):302-7. PubMed ID: 20843714
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
    Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ.
    Hum Mol Genet; 2003 Sep 01; 12(17):2241-7. PubMed ID: 12915468
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. 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 Sep 28; 38(1):37-44. PubMed ID: 17098454
    [Abstract] [Full Text] [Related]

  • 11. DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
    Li Y, Xu A, Ouyang Q, Zhang W, Zhang C, Chen Z, Zhou D, Zhang B, Duan W, Zhao X, Wang X, You H, Ou X, Jia J, Huang J.
    Hepatol Int; 2023 Jun 28; 17(3):648-661. PubMed ID: 36729283
    [Abstract] [Full Text] [Related]

  • 12. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.
    Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justiça B, Wolff R, De Sousa M.
    Immunogenetics; 1998 Apr 28; 47(5):404-10. PubMed ID: 9510559
    [Abstract] [Full Text] [Related]

  • 13. Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
    Stickel F, Buch S, Zoller H, Hultcrantz R, Gallati S, Österreicher C, Finkenstedt A, Stadlmayr A, Aigner E, Sahinbegovic E, Sarrazin C, Schafmayer C, Braun F, Erhart W, Nothnagel M, Lerch MM, Mayerle J, Völzke H, Schaller A, Kratzer W, Boehm BO, Sipos B, D'Amato M, Torkvist L, Stal P, Arlt A, Franke A, Becker T, Krawczak M, Zwerina J, Berg T, Hinrichsen H, Krones E, Dejaco C, Strasser M, Datz C, Hampe J.
    Hum Mol Genet; 2014 Jul 15; 23(14):3883-90. PubMed ID: 24556216
    [Abstract] [Full Text] [Related]

  • 14. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
    Bittencourt PL, Marin ML, Couto CA, Cançado EL, Carrilho FJ, Goldberg AC.
    Clinics (Sao Paulo); 2009 Jul 15; 64(9):837-41. PubMed ID: 19759876
    [Abstract] [Full Text] [Related]

  • 15. Mutations of the HFE gene among Turkish hereditary hemochromatosis patients.
    Simsek H, Balaban YH, Yilmaz E, Sumer H, Buyukasik Y, Cengiz C, Ozcebe O, Hascelik G, Tatar G.
    Ann Hematol; 2005 Oct 15; 84(10):646-9. PubMed ID: 15871018
    [Abstract] [Full Text] [Related]

  • 16. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.
    Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, Andrews NC, Vaulont S.
    Nat Genet; 2003 May 15; 34(1):97-101. PubMed ID: 12704388
    [Abstract] [Full Text] [Related]

  • 17. [Hereditary and acquired iron overload].
    de Korwin JD.
    Nephrol Ther; 2006 Nov 15; 2 Suppl 5():S304-12. PubMed ID: 17373275
    [Abstract] [Full Text] [Related]

  • 18. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
    Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G.
    Blood; 2002 Aug 01; 100(3):1075-7. PubMed ID: 12130528
    [Abstract] [Full Text] [Related]

  • 19. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
    Aguilar-Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M, Lassoued K, Schved JF, Rochette J.
    Haematologica; 2011 Apr 01; 96(4):507-14. PubMed ID: 21228038
    [Abstract] [Full Text] [Related]

  • 20. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
    Mendes AI, Ferro A, Martins R, Picanço I, Gomes S, Cerqueira R, Correia M, Nunes AR, Esteves J, Fleming R, Faustino P.
    Ann Hematol; 2009 Mar 01; 88(3):229-34. PubMed ID: 18762941
    [Abstract] [Full Text] [Related]

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