These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. Jánosi A; Andrikovics H; Vas K; Bors A; Hubay M; Sápi Z; Tordai A Blood; 2005 Jan; 105(1):432. PubMed ID: 15611318 [No Abstract] [Full Text] [Related]
24. Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. Hattori A; Tomosugi N; Tatsumi Y; Suzuki A; Hayashi K; Katano Y; Inagaki Y; Ishikawa T; Hayashi H; Goto H; Wakusawa S Blood Cells Mol Dis; 2012 Mar; 48(3):179-82. PubMed ID: 22297252 [TBL] [Abstract][Full Text] [Related]
25. Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? Hamdi-Rozé H; Ben Ali Z; Ropert M; Detivaud L; Aggoune S; Simon D; Pelletier G; Deugnier Y; David V; Bardou-Jacquet E Blood Cells Mol Dis; 2019 Feb; 74():30-33. PubMed ID: 30389309 [TBL] [Abstract][Full Text] [Related]
26. Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases. Barton JC; Lee PL; West C; Bottomley SS Am J Hematol; 2006 Oct; 81(10):760-7. PubMed ID: 16838333 [TBL] [Abstract][Full Text] [Related]
27. Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario. Goyal A; Mohan B; Saggar K; Wander GS BMJ Case Rep; 2020 Sep; 13(9):. PubMed ID: 32938653 [TBL] [Abstract][Full Text] [Related]
28. Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma. Barton JC; Lee PL Blood Cells Mol Dis; 2006; 36(3):342-6. PubMed ID: 16540354 [TBL] [Abstract][Full Text] [Related]
29. Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review. Kong X; Xie L; Zhu H; Song L; Xing X; Yang W; Chen X Orphanet J Rare Dis; 2019 Jul; 14(1):171. PubMed ID: 31286966 [TBL] [Abstract][Full Text] [Related]
30. [Magnetic resonance tomography in hepatocellular carcinoma and idiopathic hemochromatosis]. Gaa J; Saini S; Ferrucci JT Radiologe; 1990 Oct; 30(10):489-91. PubMed ID: 2175039 [TBL] [Abstract][Full Text] [Related]
31. Identification of a novel mutation (C321X) in HJV. Huang FW; Rubio-Aliaga I; Kushner JP; Andrews NC; Fleming MD Blood; 2004 Oct; 104(7):2176-7. PubMed ID: 15138164 [TBL] [Abstract][Full Text] [Related]
32. Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review. Alqanatish J; Alsowailmi B; Alfarhan H; Alhamzah A; Alharbi T Open Access Rheumatol; 2021; 13():15-21. PubMed ID: 33488128 [TBL] [Abstract][Full Text] [Related]
33. 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 [TBL] [Abstract][Full Text] [Related]
34. Can large cell change and high proliferative activity predict hepatocellular carcinoma in patients with hereditary hemochromatosis? Fracanzani AL; Borzio M; Roncalli M; Derenzini M; Trerè D; Mattioli M; Taioli E; Fiorelli G; Fargion S Am J Gastroenterol; 2000 Oct; 95(10):2940-5. PubMed ID: 11051372 [TBL] [Abstract][Full Text] [Related]
35. Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE). Bardou-Jacquet E; Brissot P Hematol Oncol Clin North Am; 2014 Aug; 28(4):625-35, v. PubMed ID: 25064704 [TBL] [Abstract][Full Text] [Related]
36. Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. Daraio F; Ryan E; Gleeson F; Roetto A; Crowe J; Camaschella C Blood Cells Mol Dis; 2005; 35(2):174-6. PubMed ID: 15967692 [TBL] [Abstract][Full Text] [Related]
38. A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient. Pointon JJ; Lok CY; Shearman JD; Suckling RJ; Rochette J; Merryweather-Clarke AT; Robson KJ Blood Cells Mol Dis; 2009; 43(2):194-8. PubMed ID: 19477142 [TBL] [Abstract][Full Text] [Related]
39. Juvenile Hemochromatosis due to a Homozygous Variant in the Moreno-Risco MB; Méndez M; Moreno-Carralero MI; López-Moreno AM; Vagace-Valero JM; Morán-Jiménez MJ Case Rep Pediatr; 2022; 2022():7743748. PubMed ID: 35449524 [TBL] [Abstract][Full Text] [Related]
40. Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. Cooray SD; Heerasing NM; Selkrig LA; Subramaniam VN; Hamblin PS; McDonald CJ; McLean CA; McNamara E; Leet AS; Roberts SK J Med Case Rep; 2018 Jan; 12(1):18. PubMed ID: 29373985 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]