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Journal Abstract Search
216 related items for PubMed ID: 29743178
1. Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease. Sandhu K, Flintoff K, Chatfield MD, Dixon JL, Ramm LE, Ramm GA, Powell LW, Subramaniam VN, Wallace DF. Blood; 2018 Jul 05; 132(1):101-110. PubMed ID: 29743178 [Abstract] [Full Text] [Related]
3. 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]
4. Molecular diagnostic and pathogenesis of hereditary hemochromatosis. Santos PCJL, Krieger JE, Pereira AC. Int J Mol Sci; 2012 Sep 28; 13(2):1497-1511. PubMed ID: 22408404 [Abstract] [Full Text] [Related]
5. 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 28; 18(6):618-26. PubMed ID: 26633544 [Abstract] [Full Text] [Related]
6. Non-HFE hemochromatosis. Pietrangelo A. Semin Liver Dis; 2005 Nov 28; 25(4):450-60. PubMed ID: 16315138 [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 28; 91(4):420-5. PubMed ID: 26799139 [Abstract] [Full Text] [Related]
8. Molecular pathogenesis of hereditary hemochromatosis. Liu J, Pu C, Lang L, Qiao L, Abdullahi MA, Jiang C. Histol Histopathol; 2016 Aug 28; 31(8):833-40. PubMed ID: 27031690 [Abstract] [Full Text] [Related]
9. HJV and HFE Play Distinct Roles in Regulating Hepcidin. Wu Q, Wang H, An P, Tao Y, Deng J, Zhang Z, Shen Y, Chen C, Min J, Wang F. Antioxid Redox Signal; 2015 May 20; 22(15):1325-36. PubMed ID: 25608116 [Abstract] [Full Text] [Related]
10. HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience. Zarifian Yeganeh R, Akbari Kelishomi M, Ahmadpour Jenaghard A, Salmani B, Vahidi Z, Makvand M, Azad M, Kooshki M, Bouraqi Y, Azarkeivan A, Najmabadi H, Neishabury M. Genet Test Mol Biomarkers; 2024 Jul 20; 28(7):289-296. PubMed ID: 38980801 [Abstract] [Full Text] [Related]
11. 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 Jul 20; 38(1):37-44. PubMed ID: 17098454 [Abstract] [Full Text] [Related]
12. 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 20; 55(1):71-5. PubMed ID: 25976471 [Abstract] [Full Text] [Related]
13. 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 20; 17(3):648-661. PubMed ID: 36729283 [Abstract] [Full Text] [Related]
14. 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]
15. Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. Wang Y, Du Y, Liu G, Guo S, Hou B, Jiang X, Han B, Chang Y, Nie G. Int J Hematol; 2017 Apr 01; 105(4):521-525. PubMed ID: 27896572 [Abstract] [Full Text] [Related]
16. 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 [Abstract] [Full Text] [Related]
17. The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. Kawabata H. Int J Hematol; 2018 Jan 13; 107(1):31-43. PubMed ID: 29134618 [Abstract] [Full Text] [Related]
18. 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 13; 55(10):650-660. PubMed ID: 30166352 [Abstract] [Full Text] [Related]
19. Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice. Delima RD, Chua AC, Tirnitz-Parker JE, Gan EK, Croft KD, Graham RM, Olynyk JK, Trinder D. Hepatology; 2012 Aug 13; 56(2):585-93. PubMed ID: 22383097 [Abstract] [Full Text] [Related]
20. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Altès A, Bach V, Ruiz A, Esteve A, Felez J, Remacha AF, Sardà MP, Baiget M. Ann Hematol; 2009 Oct 13; 88(10):951-5. PubMed ID: 19214511 [Abstract] [Full Text] [Related] Page: [Next] [New Search]