Literature DB >> 10431233

Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.

G P Jeffrey, S Chakrabarti, R A Hegele, P C Adams.   

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Year:  1999        PMID： 10431233     DOI： 10.1038/11892

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  16 in total

1.  A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.

Authors:  T Pastinen; M Raitio; K Lindroos; P Tainola; L Peltonen; A C Syvänen
Journal:  Genome Res       Date:  2000-07       Impact factor: 9.043

2.  Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.

Authors:  J B Whitfield; L M Cullen; E C Jazwinska; L W Powell; A C Heath; G Zhu; D L Duffy; N G Martin
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

3.  Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.

Authors:  S P Hussain; K Raja; P A Amstad; M Sawyer; L J Trudel; G N Wogan; L J Hofseth; P G Shields; T R Billiar; C Trautwein; T Hohler; P R Galle; D H Phillips; R Markin; A J Marrogi; C C Harris
Journal:  Proc Natl Acad Sci U S A       Date:  2000-11-07       Impact factor: 11.205

4.  Thyroid function in haemochromatosis.

Authors:  M S Murphy; C H Walsh
Journal:  Ir J Med Sci       Date:  2004 Jan-Mar       Impact factor: 1.568

5.  HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis.

Authors:  S Distante; J P Berg; K Lande; E Haug; H Bell
Journal:  Gut       Date:  2000-10       Impact factor: 23.059

6.  Serum ferritin, insulin resistance, and metabolic syndrome: clinical and laboratory associations in 769 non-hispanic whites without diabetes mellitus in the HEIRS study.

Authors:  Ronald T Acton; J Clayborn Barton; James C Barton
Journal:  Metab Syndr Relat Disord       Date:  2014-11-25       Impact factor: 1.894

7.  Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Authors:  Gordon D McLaren; Victor R Gordeuk
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2009

8.  Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?

Authors:  E Ryan; V Byrnes; B Coughlan; A-M Flanagan; S Barrett; J C O'Keane; J Crowe
Journal:  Gut       Date:  2002-07       Impact factor: 23.059

9.  Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania.

Authors:  A-M Neghina; A Anghel; I Sporea; A Popescu; R Neghina; A Collins; K Thorstensen
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

10.  Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening.

Authors:  Gordon D McLaren; Christine E McLaren; Paul C Adams; James C Barton; David M Reboussin; Victor R Gordeuk; Ronald T Acton; Emily L Harris; Mark R Speechley; Phyliss Sholinsky; Fitzroy W Dawkins; Beverly M Snively; Thomas M Vogt; John H Eckfeldt
Journal:  Can J Gastroenterol       Date:  2008-11       Impact factor: 3.522
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