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Items: 1 to 20 of 75

1.

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T.

Lancet. 2002 Jan 19;359(9302):211-8.

PMID:
11812557
2.

The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population.

Merryweather-Clarke AT, Worwood M, Parkinson L, Mattock C, Pointon JJ, Shearman JD, Robson KJ.

Br J Haematol. 1998 May;101(2):369-73.

PMID:
9609537
3.

Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene.

Waalen J, Felitti V, Gelbart T, Ho NJ, Beutler E.

Mayo Clin Proc. 2002 Jun;77(6):522-30.

PMID:
12059121
4.

The significance of haemochromatosis gene mutations in the general population: implications for screening.

Burt MJ, George PM, Upton JD, Collett JA, Frampton CM, Chapman TM, Walmsley TA, Chapman BA.

Gut. 1998 Dec;43(6):830-6.

5.

Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?

Ryan E, Byrnes V, Coughlan B, Flanagan AM, Barrett S, O'Keane JC, Crowe J.

Gut. 2002 Jul;51(1):108-12.

6.

HFE genotype in patients with hemochromatosis and other liver diseases.

Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK.

Ann Intern Med. 1999 Jun 15;130(12):953-62.

PMID:
10383365
7.

Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people.

Deugnier Y, Jouanolle AM, Chaperon J, Moirand R, Pithois C, Meyer JF, Pouchard M, Lafraise B, Brigand A, Caserio-Schoenemann C, Mosser J, Adams P, Le Gall JY, David V.

Br J Haematol. 2002 Sep;118(4):1170-8.

PMID:
12199803
8.

Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase.

Bhavnani M, Lloyd D, Bhattacharyya A, Marples J, Elton P, Worwood M.

Gut. 2000 May;46(5):707-10.

9.

Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.

Pedersen P, Milman N.

Ann Hematol. 2009 Aug;88(8):775-84. doi: 10.1007/s00277-008-0679-1. Epub 2009 Jan 22.

PMID:
19159930
10.

The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.

Watkins S, Thorburn D, Joshi N, Neilson M, Joyce T, Spooner R, Cooke A, Mills PR, Morris AJ, Stanley AJ.

Eur J Gastroenterol Hepatol. 2008 May;20(5):379-83. doi: 10.1097/MEG.0b013e3282f3e708.

PMID:
18403938
11.

The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients.

Stuart KA, Busfield F, Jazwinska EC, Gibson P, Butterworth LA, Cooksley WG, Powell LW, Crawford DH.

J Hepatol. 1998 Mar;28(3):404-9.

PMID:
9551677
12.
13.

[Diagnosis and treatment of primary hemochromatosis].

Swinkels DW, Marx JJ.

Ned Tijdschr Geneeskd. 1999 Jul 3;143(27):1404-8. Review. Dutch.

PMID:
10422553
14.

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. Epub 2006 Oct 17.

PMID:
17042772
15.

Genetics of haemochromatosis.

Bomford A.

Lancet. 2002 Nov 23;360(9346):1673-81. Review.

PMID:
12457803
16.

Hereditary haemochromatosis mutation frequencies in the general population.

Bradley LA, Johnson DD, Palomaki GE, Haddow JE, Robertson NH, Ferrie RM.

J Med Screen. 1998;5(1):34-6.

PMID:
9575458
17.

High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa.

de Villiers JN, Hillerman R, de Jong G, Langenhoven E, Rossouw H, Marx MP, Kotze MJ.

S Afr Med J. 1999 Mar;89(3):279-82.

PMID:
10226674
18.

Searching for hereditary hemochromatosis.

Laudicina RJ.

Clin Lab Sci. 2006 Summer;19(3):174-83.

PMID:
16910235
19.

Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study.

Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, Larsen LE, Appleyard M, Frandsen M, Petersen P, Schlichting P, Saermark T, Tybjaerg-Hansen A, Birgens H.

Lancet. 2001 Oct 27;358(9291):1405-9.

PMID:
11705485
20.

Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.

Kelly AL, Rhodes DA, Roland JM, Schofield P, Cox TM.

QJM. 1998 Sep;91(9):607-18.

PMID:
10024915

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