
Hemochromatosis 3 is an autosomal dominant disorder caused by mutations of the TRF2 gene.
|  Hemochromatosis | ||||
|   |  Hemochromatosis 1 | |||
|   |  Hemochromatosis 2a | |||
|   |  Hemochromatosis 2b | |||
|   |  Hemochromatosis 3 | |||
|   |   |    TFR2 | ||
|   |  Hemochromatosis 4 | |||
|   |  Hemochromatosis 5 | |||
|  |  |  |  |  | 
| 1. | de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice.   | 
| 2. | Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.   | 
| 3. | Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.   | 
| 4. | Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.   | 
| 5. | Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.   | 
| 6. | Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.   | 
| 7. | Simon M et al. (1977) Heredity of idiopathic haemochromatosis.   | 
| 8. | Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families.   | 
| 9. | Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis.   | 
| 10. | Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes.   | 
| 11. | Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease.   | 
| 12. | Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele.   | 
| 13. | Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease.   | 
| 14. | None (1979) Genetic linkage and hemosiderosis.   | 
| 15. | Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA.   | 
| 16. | Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis.   | 
| 17. | Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA.   | 
| 18. | Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH).   | 
| 19. | Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA.   | 
| 20. | Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people.   | 
| 21. | None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis.   | 
| 22. | Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families.   | 
| 23. | Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children.   | 
| 24. | Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred.   | 
| 25. | Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.   | 
| 26. | Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis.   | 
| 27. | Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.   | 
| 28. | Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis.   | 
| 29. | Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers.   | 
| 30. | Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.   | 
| 31. | Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis.   | 
| 32. | Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.   | 
| 33. | Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p.   | 
| 34. | None (1992) Intrafamilial variation in hereditary hemochromatosis.   | 
| 35. | Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.   | 
| 36. | Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.   | 
| 37. | Dokal I et al. (1991) Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus.   | 
| 38. | Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus.   | 
| 39. | None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases.   | 
| 40. | Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis.   | 
| 41. | Worwood M et al. (1991) Hereditary haemochromatosis and blood donation.   | 
| 42. | Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis.   | 
| 43. | Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6.   | 
| 44. | Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians.   | 
| 45. | Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis.   | 
| 46. | Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.   | 
| 47. | Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.   | 
| 48. | David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis.   | 
| 49. | Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families.   | 
| 50. | Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.   | 
| 51. | Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.   | 
| 52. | David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family.   | 
| 53. | Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population.   | 
| 54. | Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene.   | 
| 55. | Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors?   | 
| 56. | McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes.   | 
| 57. | None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII.   | 
| 58. | Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland.   | 
| 59. | Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis.   | 
| 60. | Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.   | 
| 61. | Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.   | 
| 63. | Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage.   | 
| 64. | Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis.   | 
| 65. | Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion.   | 
| 66. | Escobar GJ et al. (1987) Primary hemochromatosis in childhood.   | 
| 67. | Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.   | 
| 68. | MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases.   | 
| 69. | Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease.   | 
| 70. | Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families.   | 
| 71. | Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients.   | 
| 72. | Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey.   | 
| 73. | Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.   | 
| 74. | Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden.   | 
| 75. | Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele?   | 
| 76. | Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.   | 
| 77. | Olsson KS et al. (1984) Screening for iron overload using transferrin saturation.   | 
| 78. | Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families.   | 
| 79. | Olsson KS et al. (1983) Prevalence of iron overload in central Sweden.   | 
| 80. | None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism.   | 
| 81. | Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.   | 
| 82. | Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families.   | 
| 83. | None (1982) A foundation for hemochromatosis.   | 
| 84. | Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses.   | 
| 85. | Simon M et al. (1980) Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.   | 
| 86. | Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis.   | 
| 87. | Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis.   | 
| 88. | Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations.   | 
| 89. | Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.   | 
| 90. | Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.   | 
| 91. | Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes.   | 
| 92. | Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.   | 
| 93. | Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.   | 
| 94. | Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis.   | 
| 95. | None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.   | 
| 96. | Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.   | 
| 97. | Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)   | 
| 98. | Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105.   | 
| 99. | Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.   | 
| 100. | el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus.   | 
| 101. | Raha-Chowdhury R et al. (1996) A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis.   | 
| 102. | Rothenberg BE et al. (1996) beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism.   | 
| 103. | None (1996) Haemochromatosis: strike while the iron is hot.   | 
| 104. | Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.   | 
| 105. | Totaro A et al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.   | 
| 106. | Jazwinska EC et al. (1996) Haemochromatosis and HLA-H.   | 
| 107. | Jouanolle AM et al. (1996) Haemochromatosis and HLA-H.   | 
| 108. | Beutler E et al. (1996) Mutation analysis in hereditary hemochromatosis.   | 
| 109. | Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.   | 
| 110. | Hashimoto K et al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.   | 
| 111. | Roberts AG et al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.   | 
| 112. | Robson KJ et al. (1997) Haemochromatosis: a gene at last?   | 
| 113. | Mercier B et al. (1997) Putting a hold on 'HLA-H'.   | 
| 114. | Bodmer JG et al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System.   | 
| 115. | Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.   | 
| 116. | Parkkila S et al. (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract.   | 
| 117. | Merryweather-Clarke AT et al. (1997) Global prevalence of putative haemochromatosis mutations.   | 
| 118. | Feder JN et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.   | 
| 119. | Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.   | 
| 120. | Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population.   | 
| 121. | Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis.   | 
| 122. | Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.   | 
| 123. | None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.   | 
| 124. | Jouanolle AM et al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.   | 
| 126. | Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.   | 
| 127. | Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.   | 
| 128. | None (1997) Haemochromatosis, HFE and genetic complexity.   | 
| 129. | Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects.   | 
| 130. | Camaschella C et al. () Juvenile and adult hemochromatosis are distinct genetic disorders.   | 
| 131. | None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.   | 
| 132. | Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.   | 
| 133. | None (1998) Targeted disruption of the HFE gene.   | 
| 134. | Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.   | 
| 135. | Lebrón JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.   | 
| 136. | Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.   | 
| 137. | Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy.   | 
| 138. | Cullen LM et al. (1998) The hemochromatosis 845 G>A and 187 C>G mutations: prevalence in non-Caucasian populations.   | 
| 139. | Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation.   | 
| 140. | Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites.   | 
| 141. | Cazzola M et al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder.   | 
| 142. | Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening.   | 
| 143. | None (1998) Celtic origin of the C282Y mutation of hemochromatosis.   | 
| 144. | Powell LW et al. (1998) Diagnosis of hemochromatosis.   | 
| 145. | Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group.   | 
| 146. | Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States.   | 
| 147. | Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients.   | 
| 148. | Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis.   | 
| 149. | Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.   | 
| 150. | Kelly AL et al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.   | 
| 151. | Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.   | 
| 152. | Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.   | 
| 153. | Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.   | 
| 154. | Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.   | 
| 155. | Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.   | 
| 156. | Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.   | 
| 157. | Roetto A et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q.   | 
| 158. | Camaschella C et al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families.   | 
| 159. | Levy JE et al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.   | 
| 160. | Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.   | 
| 161. | de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.   | 
| 162. | Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.   | 
| 163. | Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene.   | 
| 164. | Gomez PS et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.   | 
| 165. | Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.   | 
| 166. | Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.   | 
| 167. | Willis G et al. (2000) Incidence of liver disease in people with HFE mutations.   | 
| 168. | Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis.   | 
| 169. | Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.   | 
| 170. | Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.   | 
| 171. | Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.   | 
| 172. | Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis.   | 
| 173. | Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis.   | 
| 174. | Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997.   | 
| 175. | Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice.   | 
| 176. | Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.   | 
| 177. | Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.   | 
| 178. | Aguilar-Martinez P et al. (2001) Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?   | 
| 179. | Moczulski DK et al. (2001) Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.   | 
| 180. | Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.   | 
| 181. | Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis.   | 
| 182. | Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.   | 
| 183. | Thénié AC et al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.   | 
| 184. | Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.   | 
| 185. | Beutler E et al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.   | 
| 186. | de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.   | 
| 187. | Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.   | 
| 188. | Cardoso CS et al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?   | 
| 189. | Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.   | 
| 190. | De Gobbi M et al. (2002) Natural history of juvenile haemochromatosis.   | 
| 191. | Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.   | 
| 192. | Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.   | 
| 193. | Poullis A et al. (2002) Clinical haemochromatosis in HFE mutation carriers.   | 
| 194. | Drakesmith H et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages.   | 
| 195. | McCune CA et al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.   | 
| 196. | Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.   | 
| 197. | Papanikolaou G et al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.   | 
| 198. | Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.   | 
| 199. | Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.   | 
| 200. | Le Gac G et al. () Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.   | 
| 201. | Milman N et al. (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.   | 
| 202. | Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.   | 
| 203. | Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.   | 
| 204. | Zoller H et al. (2003) Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis.   | 
| 206. | DEBRE R et al. (1958) Genetics of haemochromatosis.   | 
| 207. | BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis.   | 
| 208. | PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY.   | 
| 209. | JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis.   | 
| 210. | Peterlin B et al. (2003) A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.   | 
| 211. | Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.   | 
| 212. | Tomatsu S et al. (2003) Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.   | 
| 213. | Livesey KJ et al. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.   | 
| 214. | Lanzara C et al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.   | 
| 215. | Robson KJ et al. (2004) Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.   | 
| 216. | Andersen RV et al. (2004) Hemochromatosis mutations in the general population: iron overload progression rate.   | 
| 217. | Roy CN et al. (2004) An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.   | 
| 218. | None (2004) Hereditary hemochromatosis--a new look at an old disease.   | 
| 219. | Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.   | 
| 220. | Mehrany K et al. (2004) Association of porphyria cutanea tarda with hereditary hemochromatosis.   | 
| 221. | Distante S et al. (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation.   | 
| 222. | Oliva R et al. (2004) The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.   | 
| 223. | Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.   | 
| 224. | Valenti L et al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.   | 
| 225. | McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis.   | 
| 226. | Gehrke SG et al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.   | 
| 227. | Ka C et al. (2005) The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.   | 
| 228. | Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.   | 
| 229. | Rohrlich PS et al. (2005) Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function.   | 
| 230. | Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.   | 
| 232. | Sarić M et al. (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.   | 
| 233. | Ludwiczek S et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.   | 
| 234. | Adams PC et al. (2007) Haemochromatosis.   | 
| 235. | Allen KJ et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.   | 
| 236. | Murugan RC et al. (2008) Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.   | 
| 237. | Waalen J et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.   | 
| 238. | None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.   | 
| 239. | Davis TM et al. (2008) Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.   | 
| 240. | Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.   | 
| 241. | Benyamin B et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.   | 
| 242. | Nairz M et al. (2009) Absence of functional Hfe protects mice from invasive Salmonella enterica serovar Typhimurium infection via induction of lipocalin-2.   | 
| 243. | Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.   | 
| 244. | Cippà PE et al. (2013) Increased height in HFE hemochromatosis.   | 
| 245. | Hill WG et al. (1968) Linkage disequilibrium in finite populations.   | 
| 246. | OMIM.ORG articleOmim 604250   |