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Journal Abstract Search
144 related items for PubMed ID: 18177470
1. Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload. Pelucchi S, Mariani R, Salvioni A, Bonfadini S, Riva A, Bertola F, Trombini P, Piperno A. Clin Genet; 2008 Feb; 73(2):171-8. PubMed ID: 18177470 [Abstract] [Full Text] [Related]
2. Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload. Mayr R, Griffiths WJ, Hermann M, McFarlane I, Halsall DJ, Finkenstedt A, Douds A, Davies SE, Janecke AR, Vogel W, Cox TM, Zoller H. Gastroenterology; 2011 Jun; 140(7):2056-63, 2063.e1. PubMed ID: 21396368 [Abstract] [Full Text] [Related]
3. Genetic and clinical heterogeneity of ferroportin disease. Cremonesi L, Forni GL, Soriani N, Lamagna M, Fermo I, Daraio F, Galli A, Pietra D, Malcovati L, Ferrari M, Camaschella C, Cazzola M. Br J Haematol; 2005 Dec; 131(5):663-70. PubMed ID: 16351644 [Abstract] [Full Text] [Related]
4. A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases. Létocart E, Le Gac G, Majore S, Ka C, Radio FC, Gourlaouen I, De Bernardo C, Férec C, Grammatico P. Br J Haematol; 2009 Nov; 147(3):379-85. PubMed ID: 19709084 [Abstract] [Full Text] [Related]
5. A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro. Moreno-Carralero MI, Muñoz-Muñoz JA, Cuadrado-Grande N, López-Rodríguez R, José Hernández-Alfaro M, del-Castillo-Rueda A, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ. Am J Hematol; 2014 Jul; 89(7):689-94. PubMed ID: 24644245 [Abstract] [Full Text] [Related]
6. A novel mutation in ferroportin implicated in iron overload. Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN. J Hepatol; 2007 May; 46(5):921-6. PubMed ID: 17383046 [Abstract] [Full Text] [Related]
7. Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease. Zoller H, McFarlane I, Theurl I, Stadlmann S, Nemeth E, Oxley D, Ganz T, Halsall DJ, Cox TM, Vogel W. Hepatology; 2005 Aug; 42(2):466-72. PubMed ID: 15986403 [Abstract] [Full Text] [Related]
8. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. Mayr R, Janecke AR, Schranz M, Griffiths WJ, Vogel W, Pietrangelo A, Zoller H. J Hepatol; 2010 Nov; 53(5):941-9. PubMed ID: 20691492 [Abstract] [Full Text] [Related]
9. Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV. Speletas M, Kioumi A, Loules G, Hytiroglou P, Tsitouridis J, Christakis J, Germenis AE. Blood Cells Mol Dis; 2008 Nov; 40(3):353-9. PubMed ID: 17997113 [Abstract] [Full Text] [Related]
10. Ferroportin diseases: functional studies, a link between genetic and clinical phenotype. Détivaud L, Island ML, Jouanolle AM, Ropert M, Bardou-Jacquet E, Le Lan C, Mosser A, Leroyer P, Deugnier Y, David V, Brissot P, Loréal O. Hum Mutat; 2013 Nov; 34(11):1529-36. PubMed ID: 23943237 [Abstract] [Full Text] [Related]
11. A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis. Morris TJ, Litvinova MM, Ralston D, Mattman A, Holmes D, Lockitch G. Blood Cells Mol Dis; 2005 Nov; 35(3):309-14. PubMed ID: 16111902 [Abstract] [Full Text] [Related]
12. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Koyama C, Wakusawa S, Hayashi H, Ueno T, Suzuki R, Yano M, Saito H, Okazaki T. Intern Med; 2005 Sep; 44(9):990-3. PubMed ID: 16258219 [Abstract] [Full Text] [Related]
13. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. Wallace DF, Clark RM, Harley HA, Subramaniam VN. J Hepatol; 2004 Apr; 40(4):710-3. PubMed ID: 15030991 [Abstract] [Full Text] [Related]
14. Phenotypic expression of ferroportin disease in a family with the N144H mutation. Rosmorduc O, Wendum D, Arrivé L, Elnaggar A, Ennibi K, Hannoun L, Charlotte F, Grangé JD, Poupon R. Gastroenterol Clin Biol; 2008 Mar; 32(3):321-7. PubMed ID: 18403150 [Abstract] [Full Text] [Related]
18. G80S-linked ferroportin disease: the first clinical description in a Greek family. Mougiou A, Pietrangelo A, Caleffi A, Kourakli A, Karakantza M, Zoumbos N. Blood Cells Mol Dis; 2008 Dec; 41(1):138-9. PubMed ID: 18420432 [No Abstract] [Full Text] [Related]
19. Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. Valenti L, Guido M, Dongiovanni P, Cremonesi L, Fracanzani AL, Fargion S. Dig Liver Dis; 2009 Jul; 41(7):e17-20. PubMed ID: 18337195 [Abstract] [Full Text] [Related]