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Items: 1 to 20 of 165

1.

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.

Cézard C, Rabbind Singh A, Le Gac G, Gourlaouen I, Ferec C, Rochette J.

Blood Cells Mol Dis. 2014 Jan;52(1):27-34. doi: 10.1016/j.bcmd.2013.07.011. Epub 2013 Aug 14.

PMID:
23953397
2.

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

Dupradeau FY, Pissard S, Coulhon MP, Cadet E, Foulon K, Fourcade C, Goossens M, Case DA, Rochette J.

Hum Mutat. 2008 Jan;29(1):206.

PMID:
18157833
3.

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Ka C, Le Gac G, Dupradeau FY, Rochette J, Férec C.

Hum Genet. 2005 Sep;117(5):467-75. Epub 2005 Jun 18.

PMID:
15965644
4.

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;96(4):507-14. doi: 10.3324/haematol.2010.029751. Epub 2011 Jan 12.

5.

Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis.

Gottschalk R, Seidl C, Schilling S, Braner A, Seifried E, Hoelzer D, Kaltwasser JP.

Eur J Immunogenet. 2000 Jun;27(3):129-34.

PMID:
10940080
6.

Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.

Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF.

Blood Cells Mol Dis. 2001 Jan-Feb;27(1):290-3.

PMID:
11358390
8.

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

Le Gac G, Dupradeau FY, Mura C, Jacolot S, Scotet V, Esnault G, Mercier AY, Rochette J, Férec C.

Blood Cells Mol Dis. 2003 May-Jun;30(3):231-7.

PMID:
12737937
9.

[Molecular genetic diagnostics and screening of hereditary hemochromatosis].

Zlocha J, Kovács L, Pozgayová S, Kupcová V, Durínová S.

Vnitr Lek. 2006 Jun;52(6):602-8. Slovak.

PMID:
16871764
10.

Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis.

Canavese C, Bergamo D, Barbieri S, Timbaldi M, Thea A, Martina G, Damiani D, Fenoglio R, Donati-Marella B, Priolo G.

Clin Nephrol. 2002 Dec;58(6):438-44.

PMID:
12508966
11.

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

Feder JN, Penny DM, Irrinki A, Lee VK, Lebrón JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC.

Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1472-7.

12.

Hereditary hemochromatosis in north-eastern Romania.

Voicu PM, Cojocariu C, Petrescu-Dănilă E, Stanciu C, Covic M, Rusu M, Trifan A.

Rev Med Chir Soc Med Nat Iasi. 2010 Oct-Dec;114(4):982-7.

PMID:
21495455
13.

Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.

Sham RL, Ou CY, Cappuccio J, Braggins C, Dunnigan K, Phatak PD.

Blood Cells Mol Dis. 1997 Aug;23(2):314-20.

PMID:
9410475
14.

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.

Bittencourt PL, Palácios SA, Couto CA, Cançado EL, Carrilho FJ, Laudanna AA, Kalil J, Gayotto LC, Goldberg AC.

Braz J Med Biol Res. 2002 Mar;35(3):329-35.

15.

Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes.

Cheng R, Barton JC, Morrison ED, Phatak PD, Krawitt EL, Gordon SC, Kowdley KV.

J Clin Gastroenterol. 2009 Jul;43(6):569-73. doi: 10.1097/MCG.0b013e3181919a33.

16.

HFE based re-evaluation of heterozygous hemochromatosis.

Moirand R, Guyader D, Mendler MH, Jouanolle AM, Le Gall JY, David V, Brissot P, Deugnier Y.

Am J Med Genet. 2002 Sep 1;111(4):356-61.

PMID:
12210292
17.

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.

Wallace DF, Dooley JS, Walker AP.

Gastroenterology. 1999 Jun;116(6):1409-12.

PMID:
10348824
18.

The functional significance of E277K and V295A HFE mutations.

Silva B, Martins R, Proença D, Fleming R, Faustino P.

Br J Haematol. 2012 Aug;158(3):399-408. doi: 10.1111/j.1365-2141.2012.09164.x. Epub 2012 May 25.

PMID:
22624560
19.

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria.

Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, David V.

J Hepatol. 1999 Apr;30(4):588-93.

PMID:
10207799
20.

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS.

Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12384-9.

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