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Items: 1 to 20 of 101

1.

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

Neřoldová M, Fraňková S, Stránecký V, Honsová E, Lukšan O, Beneš M, Michalová K, Kmoch S, Jirsa M.

Clin Genet. 2015;87(1):96-8. doi: 10.1111/cge.12346. No abstract available.

PMID:
24635876
2.

Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report.

Militaru MS, Popp RA, Trifa AP.

J Gastrointestin Liver Dis. 2010 Jun;19(2):191-3.

3.

Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.

Santos PC, Cançado RD, Pereira AC, Schettert IT, Soares RA, Pagliusi RA, Hirata RD, Hirata MH, Teixeira AC, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.

Blood Cells Mol Dis. 2011 Apr 15;46(4):302-7. doi: 10.1016/j.bcmd.2011.02.008.

PMID:
21411349
4.

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Férec C.

Hum Mol Genet. 2004 Sep 1;13(17):1913-8.

5.

[Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].

Yuanfeng L, Hongxing Z, Haitao Z, Xiaobo P, Lili B, Fuchu H, Zewu Q, Gangqiao Z.

Yi Chuan. 2014 Nov;36(11):1152-8. doi: 10.3724/SP.J.1005.2014.1152. Chinese.

PMID:
25567873
6.

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J.

Haematologica. 2007 Mar;92(3):421-2.

7.

Hereditary haemochromatosis.

Janssen MC, Swinkels DW.

Best Pract Res Clin Gastroenterol. 2009;23(2):171-83. doi: 10.1016/j.bpg.2009.02.004. Review.

PMID:
19414144
8.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

Gomez PS, Parks S, Ries R, Tran TC, Gomez PF, Press RD.

Nat Genet. 1999 Nov;23(3):272. No abstract available.

PMID:
10545944
9.

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

Brakensiek K, Fegbeutel C, Mälzer M, Strüber M, Kreipe H, Stuhrmann M.

Clin Genet. 2009 Nov;76(5):493-5. doi: 10.1111/j.1399-0004.2009.01261.x. No abstract available.

PMID:
19796184
10.

Recent advances in understanding haemochromatosis: a transition state.

Robson KJ, Merryweather-Clarke AT, Cadet E, Viprakasit V, Zaahl MG, Pointon JJ, Weatherall DJ, Rochette J.

J Med Genet. 2004 Oct;41(10):721-30. Review. Erratum in: J Med Genet. 2004 Dec;41(12):959.

11.

[Familiar penetrancy of HFE gene: four brothers of the same family affected by hereditary haemochromatosis].

Vázquez Romero M, Boixeda de Miquel D, Martín de Argila de Prados C, Vallcorba Gómez del Valle I, Cabello Albendea P, López San Román A, San Román Cos-Gayón C.

Rev Esp Enferm Dig. 2005 Aug;97(8):608-9. Spanish. No abstract available.

12.

[Frequency of HFE gene mutations and genotype-phenotype correlations in patients with hereditary hemochromatosis in Switzerland].

Himmelmann A, Bortoluzzi L, Jansen S, Fehr J.

Schweiz Med Wochenschr. 2000 Aug 8;130(31-32):1112-9. German.

PMID:
11008304
13.

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.

Datz C, Lalloz MR, Vogel W, Graziadei I, Hackl F, Vautier G, Layton DM, Maier-Dobersberger T, Ferenci P, Penner E, Sandhofer F, Bomford A, Paulweber B.

J Hepatol. 1997 Nov;27(5):773-9.

PMID:
9382962
14.

Population genetic screening for hereditary haemochromatosis: are we a step closer?

Allen KJ.

Med J Aust. 2008 Sep 15;189(6):300-1. No abstract available.

PMID:
18803529
15.

Haemochromatosis and HLA-H.

Jouanolle AM, Gandon G, Jézéquel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, Chauvel B, Bouric P, Carn G, Andrieux N, Gicquel I, Le Gall JY, David V.

Nat Genet. 1996 Nov;14(3):251-2. No abstract available.

PMID:
8896550
16.

Evaluation of a nucleic acid-based cross-linking assay to screen for hereditary hemochromatosis in healthy blood donors.

Wylenzek C, Engelmann M, Holten D, Van Atta R, Wood M, Gathof B.

Clin Chem. 2000 Nov;46(11):1853-5. No abstract available.

17.

Review article: targeted screening for hereditary haemochromatosis in high-risk groups.

DuBois S, Kowdley KV.

Aliment Pharmacol Ther. 2004 Jul 1;20(1):1-14. Review.

18.

Hereditary haemochromatosis.

Janssen MC.

Neth J Med. 2007 Dec;65(11):409-10. No abstract available.

19.

Human gene mutations. Gene symbol: HFE. Disease: hereditary haemochromatosis.

de Villiers JN, Scholtz CL, Hoogendijk CF, Cawood EJ, Kotze MJ.

Hum Genet. 1998 Jan;102(1):127. No abstract available.

PMID:
9490291
20.

Gene symbol: HFE. Disease: Haemochromatosis.

Bento MC, Ribeiro ML, Relvas L.

Hum Genet. 2004 Mar;114(4):405. No abstract available.

PMID:
15046077
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