360 related articles for article (PubMed ID: 16923517)
1. Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
Majore S; Milano F; Binni F; Stuppia L; Cerrone A; Tafuri A; De Bernardo C; Palka G; Grammatico P
Haematologica; 2006 Aug; 91(8 Suppl):ECR33. PubMed ID: 16923517
[TBL] [Abstract][Full Text] [Related]
2. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G; Mons F; Jacolot S; Scotet V; Férec C; Frébourg T
Br J Haematol; 2004 Jun; 125(5):674-8. PubMed ID: 15147384
[TBL] [Abstract][Full Text] [Related]
3. TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
Radio FC; Majore S; Binni F; Valiante M; Ricerca BM; De Bernardo C; Morrone A; Grammatico P
Blood Cells Mol Dis; 2014; 52(2-3):83-7. PubMed ID: 24055163
[TBL] [Abstract][Full Text] [Related]
4. Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C; Wakusawa S; Hayashi H; Suzuki R; Yano M; Yoshioka K; Kozuru M; Takayamam Y; Okada T; Mabuchi H
Haematologica; 2005 Mar; 90(3):302-7. PubMed ID: 15749661
[TBL] [Abstract][Full Text] [Related]
5. Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3.
Drake SF; Morgan EH; Herbison CE; Delima R; Graham RM; Chua AC; Leedman PJ; Fleming RE; Bacon BR; Olynyk JK; Trinder D
Am J Physiol Gastrointest Liver Physiol; 2007 Jan; 292(1):G323-8. PubMed ID: 16935854
[TBL] [Abstract][Full Text] [Related]
6. New TFR2 mutations in young Italian patients with hemochromatosis.
Biasiotto G; Camaschella C; Forni GL; Polotti A; Zecchina G; Arosio P
Haematologica; 2008 Feb; 93(2):309-10. PubMed ID: 18245657
[TBL] [Abstract][Full Text] [Related]
7. Type 3 hemochromatosis and beta-thalassemia trait.
Riva A; Mariani R; Bovo G; Pelucchi S; Arosio C; Salvioni A; Vergani A; Piperno A
Eur J Haematol; 2004 May; 72(5):370-4. PubMed ID: 15059075
[TBL] [Abstract][Full Text] [Related]
8. Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.
Gérolami V; Le Gac G; Mercier L; Nezri M; Bergé-Lefranc JL; Férec C
Haematologica; 2008 May; 93(5):e45-6. PubMed ID: 18450729
[No Abstract] [Full Text] [Related]
9. Screening for hemochromatosis in asymptomatic subjects with or without a family history.
Powell LW; Dixon JL; Ramm GA; Purdie DM; Lincoln DJ; Anderson GJ; Subramaniam VN; Hewett DG; Searle JW; Fletcher LM; Crawford DH; Rodgers H; Allen KJ; Cavanaugh JA; Bassett ML
Arch Intern Med; 2006 Feb; 166(3):294-301. PubMed ID: 16476869
[TBL] [Abstract][Full Text] [Related]
10. 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; 100(3):1075-7. PubMed ID: 12130528
[TBL] [Abstract][Full Text] [Related]
11. Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload.
Wallace DF; Summerville L; Subramaniam VN
Gastroenterology; 2007 Jan; 132(1):301-10. PubMed ID: 17241880
[TBL] [Abstract][Full Text] [Related]
12. [Genetics of hereditary iron overload].
Le Gall JY; Jouanolle AM; Fergelot P; Mosser J; David V
Bull Acad Natl Med; 2004; 188(2):247-62; discussion 262-3. PubMed ID: 15506716
[TBL] [Abstract][Full Text] [Related]
13. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.
Fleming RE; Ahmann JR; Migas MC; Waheed A; Koeffler HP; Kawabata H; Britton RS; Bacon BR; Sly WS
Proc Natl Acad Sci U S A; 2002 Aug; 99(16):10653-8. PubMed ID: 12134060
[TBL] [Abstract][Full Text] [Related]
14. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Roetto A; Totaro A; Piperno A; Piga A; Longo F; Garozzo G; Calì A; De Gobbi M; Gasparini P; Camaschella C
Blood; 2001 May; 97(9):2555-60. PubMed ID: 11313241
[TBL] [Abstract][Full Text] [Related]
15. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload.
Piperno A; Roetto A; Mariani R; Pelucchi S; Corengia C; Daraio F; Piga A; Garozzo G; Camaschella C
Haematologica; 2004 Mar; 89(3):359-60. PubMed ID: 15020277
[TBL] [Abstract][Full Text] [Related]
16. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
de Diego C; Opazo S; Murga MJ; Martínez-Castro P
Eur J Haematol; 2007 Jan; 78(1):66-71. PubMed ID: 17042772
[TBL] [Abstract][Full Text] [Related]
17. Hemochromatosis due to mutations in transferrin receptor 2.
Roetto A; Daraio F; Alberti F; Porporato P; Calì A; De Gobbi M; Camaschella C
Blood Cells Mol Dis; 2002; 29(3):465-70. PubMed ID: 12547237
[TBL] [Abstract][Full Text] [Related]
18. Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.
Wallace DF; Summerville L; Crampton EM; Subramaniam VN
Am J Physiol Cell Physiol; 2008 Feb; 294(2):C383-90. PubMed ID: 18094142
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).
Rivard SR; Mura C; Simard H; Simard R; Grimard D; Le Gac G; Raguenes O; Férec C; De Braekeleer M
Blood Cells Mol Dis; 2000 Feb; 26(1):10-4. PubMed ID: 10772871
[TBL] [Abstract][Full Text] [Related]
20. Transferrin receptor 2 is frequently expressed in human cancer cell lines.
Calzolari A; Oliviero I; Deaglio S; Mariani G; Biffoni M; Sposi NM; Malavasi F; Peschle C; Testa U
Blood Cells Mol Dis; 2007; 39(1):82-91. PubMed ID: 17428703
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]