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Items: 1 to 20 of 103

1.

Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.

Kefala-Agoropoulou K, Roilides E, Lazaridou A, Karatza E, Farmaki E, Tsantali H, Augoustides-Savvopoulou P, Tsiouris J.

Hematology. 2007 Dec;12(6):549-53.

PMID:
17852457
2.

Iron-overload-related disease in HFE hereditary hemochromatosis.

Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM.

N Engl J Med. 2008 Jan 17;358(3):221-30. doi: 10.1056/NEJMoa073286.

3.

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.

4.

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

Del-Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, Alvarez-Sala-Walther LA, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.

Gene. 2012 Oct 15;508(1):15-20. doi: 10.1016/j.gene.2012.07.069. Epub 2012 Aug 4.

PMID:
22890139
5.

Cutaneous zygomycosis in an infant with Pearson syndrome.

Kefala-Agoropoulou K, Farmaki E, Tsiouris J, Roilides E, Velegraki A.

Pediatr Blood Cancer. 2008 Apr;50(4):939-40. No abstract available.

PMID:
17914738
6.

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
7.

Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney.

Kaczorowska-Hac B, Sikorska K, Bielawski KP, Schramm K, Balcerska A.

Int J Hematol. 2007 May;85(4):300-3.

PMID:
17483072
8.
9.

Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis.

Hunt JR, Zeng H.

Am J Clin Nutr. 2004 Oct;80(4):924-31. Erratum in: Am J Clin Nutr. 2005 Mar;81(3):728.

10.

Correlation between iron status and genetic hemochromatosis (codon C282Y) in a large German population.

Wrede CE, Hutzler S, Bollheimer LC, Buettner R, Hellerbrand C, Schöelmerich J, Palitzsch KD.

Isr Med Assoc J. 2004 Jan;6(1):30-3.

11.

[Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload].

Campos Franco J, González Quintela A, Fernández de Trocóniz LL, Barros Angueira F, Pérez-Quintela BV, Pérez Becerra E, Martínez de Rituerto ST, Otero Antón E, Torre Carballada JA.

Rev Clin Esp. 2002 Oct;202(10):534-9. Spanish.

PMID:
12361551
12.

Hemochromatosis and iron-overload screening in a racially diverse population.

Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P; Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators.

N Engl J Med. 2005 Apr 28;352(17):1769-78.

13.

Contribution of different HFE genotypes to iron overload disease: a pooled analysis.

Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ.

Genet Med. 2000 Sep-Oct;2(5):271-7. Review.

PMID:
11399207
14.

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
15.

Characteristics of HFE C282Y homozygotes younger than age 30 years.

Barton JC, Felitti VJ, Lee P, Beutler E.

Acta Haematol. 2004;112(4):219-21. No abstract available.

PMID:
15564736
16.

Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).

Martinelli AL, Filho R, Cruz S, Franco R, Tavella M, Secaf M, Ramalho L, Zucoloto S, Rodrigues S, Zago M.

Genet Mol Res. 2005 Mar 31;4(1):31-8.

17.

HFE mutations do not account for transfusional iron overload in patients with acute myeloid leukemia.

Parkkila S, Niemelä O, Savolainen ER, Koistinen P.

Transfusion. 2001 Jun;41(6):828-31.

PMID:
11399828
18.

[Hereditary and acquired iron overload].

de Korwin JD.

Nephrol Ther. 2006 Nov;2 Suppl 5:S304-12. French.

PMID:
17373275
19.

Vibrio vulnificus septicemia in a patient with the hemochromatosis HFE C282Y mutation.

Gerhard GS, Levin KA, Price Goldstein J, Wojnar MM, Chorney MJ, Belchis DA.

Arch Pathol Lab Med. 2001 Aug;125(8):1107-9.

PMID:
11473471
20.

HFE mutations, iron deficiency and overload in 10,500 blood donors.

Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, Napier JA, Worwood M.

Br J Haematol. 2001 Aug;114(2):474-84.

PMID:
11529872
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