EASL clinical practice guidelines for HFE hemochromatosis, J Hepatol, vol.53, issue.1, pp.3-22, 2010. ,
Iron-overload-related disease in HFE hereditary hemochromatosis, N Engl J Med, vol.358, issue.3, pp.221-230, 2008. ,
The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis, Liver International, vol.50, issue.8, pp.298-304, 2006. ,
DOI : 10.1002/hep.20023
Penetrance of 845G???A (C282Y) HFE hereditary haemochromatosis mutation in the USA, The Lancet, vol.359, issue.9302, pp.211-218, 2002. ,
DOI : 10.1016/S0140-6736(02)07447-0
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people, Br J Haematol, vol.118, issue.4, pp.1170-1178, 2002. ,
HFE mutations, iron deficiency and overload in 10 500 blood donors, British Journal of Haematology, vol.129, issue.2, pp.474-484, 2001. ,
DOI : 10.1073/pnas.95.5.2492
Hemochromatosis and iron-overload screening in a racially diverse population, N Engl J Med, vol.352, issue.17, pp.1769-1778, 2005. ,
Hemochromatosis mutations in the general population: iron overload progression rate, Blood, vol.103, issue.8, pp.2914-2919, 2004. ,
DOI : 10.1182/blood-2003-10-3564
The Significance of the 187G (H63D) Mutation in Hemochromatosis, The American Journal of Human Genetics, vol.61, issue.3, pp.762-764, 1997. ,
DOI : 10.1016/S0002-9297(07)64339-0
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis, Gastroenterology, vol.115, issue.4, pp.929-936, 1998. ,
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading, J Med Genet, vol.41, issue.1, pp.6-10, 2004. ,
The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis, Blood Cells, Molecules, and Diseases, vol.33, issue.3, pp.344-345, 2004. ,
DOI : 10.1016/j.bcmd.2004.06.006
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype, Blood, vol.103, issue.7, pp.2835-2840, 2004. ,
DOI : 10.1182/blood-2003-10-3366
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis, Hum Mol Genet, vol.12, issue.17, pp.2241-2247, 2003. ,
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype, Human Molecular Genetics, vol.13, issue.17, pp.1913-1918, 2004. ,
DOI : 10.1093/hmg/ddh206
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance, Am J Hum Genet, vol.81, issue.4, pp.799-807, 2007. ,
A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study, Blood Cells Mol Dis, vol.44, issue.1, pp.34-37, 2010. ,
hereditary haemochromatosis, British Journal of Haematology, vol.37, issue.1, pp.140-149, 2009. ,
DOI : 10.1111/j.1365-2141.2009.07843.x
CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients, Haematologica, vol.97, issue.12, pp.1818-1825, 2012. ,
Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis, J Hepatol, vol.57, issue.6, pp.1319-1325, 2012. ,
Current approach to hemochromatosis, Blood Reviews, vol.22, issue.4, pp.195-210, 2008. ,
DOI : 10.1016/j.blre.2008.03.001
An algorithm for the grading of activity in chronic hepatitis C, Hepatology, vol.24, issue.2, 1996. ,
DOI : 10.1002/hep.510240201
GenABEL: an R library for genome-wide association analysis, Bioinformatics, vol.23, issue.10, pp.1294-1296, 2007. ,
DOI : 10.1093/bioinformatics/btm108
OriginMiner : show me your genes and I'll tell you where you come from, Presented at the 62nd Annual Meeting of The American Society of Human Genetics, 2012. ,
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel, Nature Communications, vol.43, p.3934 ,
DOI : 10.1038/ncomms4934
A new multipoint method for genome-wide association studies by imputation of genotypes, Nature Genetics, vol.164, issue.7, pp.906-919, 2007. ,
DOI : 10.1038/nrg1916
LocusZoom: regional visualization of genome-wide association scan results, Bioinformatics, vol.26, issue.18, pp.2336-2337, 2010. ,
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA), Nat Genet, vol.40, issue.5, pp.569-571, 2008. ,
The serine protease TMPRSS6 is required to sense iron deficiency, Science, vol.320, issue.5879, pp.1088-1092, 2008. ,
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels, Nat Genet, issue.11, pp.41-1170, 2009. ,
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume, Nat Genet, vol.41, issue.11, pp.1173-1175, 2009. ,
A genome-wide association analysis of serum iron concentrations, Blood, vol.115, issue.1, pp.94-96, 2010. ,
Variants in TF and HFE Explain ???40% of Genetic Variation in Serum-Transferrin Levels, The American Journal of Human Genetics, vol.84, issue.1, pp.60-65, 2009. ,
DOI : 10.1016/j.ajhg.2008.11.011
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels, Hum Mol Genet, vol.20, issue.6, pp.1232-1240, 2011. ,
The pathophysiology and pharmacology of hepcidin, Trends in Pharmacological Sciences, vol.35, issue.3, pp.155-61, 2014. ,
DOI : 10.1016/j.tips.2014.01.004
Regulation of systemic iron homeostasis, Current Opinion in Hematology, vol.20, issue.3, pp.208-214, 2013. ,
DOI : 10.1097/MOH.0b013e32835f5a47