Genetische Störungen des Eisenstoffwechsels betreffen die Aufnahme, Speicherung oder Ausscheidung des Eisens und resultieren in Mangel oder Überschuss.
1. |
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2. |
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3. |
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4. |
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16. |
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21. |
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38. |
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39. |
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40. |
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41. |
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
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59. |
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60. |
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61. |
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62. |
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63. |
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64. |
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65. |
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66. |
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67. |
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68. |
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69. |
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72. |
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73. |
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74. |
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75. |
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76. |
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77. |
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78. |
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79. |
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80. |
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81. |
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84. |
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85. |
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86. |
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87. |
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88. |
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89. |
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90. |
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91. |
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92. |
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93. |
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94. |
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95. |
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96. |
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97. |
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98. |
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99. |
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100. |
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101. |
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103. |
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104. |
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105. |
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106. |
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107. |
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108. |
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109. |
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110. |
None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean. |
111. |
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112. |
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113. |
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114. |
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115. |
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116. |
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117. |
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118. |
None (1996) Haemochromatosis: strike while the iron is hot. |
119. |
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120. |
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121. |
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122. |
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123. |
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124. |
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125. |
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126. |
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127. |
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128. |
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129. |
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130. |
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131. |
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132. |
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133. |
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134. |
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135. |
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136. |
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137. |
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138. |
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139. |
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140. |
Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. |
141. |
None (1997) The significance of the 187G (H63D) mutation in hemochromatosis. |
142. |
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144. |
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145. |
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146. |
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147. |
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148. |
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149. |
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150. |
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151. |
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152. |
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153. |
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154. |
None (1998) Targeted disruption of the HFE gene. |
155. |
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156. |
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157. |
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158. |
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159. |
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160. |
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161. |
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162. |
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163. |
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164. |
None (1998) Celtic origin of the C282Y mutation of hemochromatosis. |
165. |
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166. |
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167. |
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168. |
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169. |
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170. |
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171. |
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172. |
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173. |
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174. |
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175. |
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176. |
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177. |
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178. |
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179. |
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180. |
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181. |
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182. |
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183. |
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184. |
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185. |
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186. |
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187. |
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188. |
Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. |
189. |
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190. |
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192. |
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193. |
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194. |
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195. |
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196. |
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197. |
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198. |
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199. |
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200. |
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201. |
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202. |
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203. |
Njajou OT et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. |
204. |
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205. |
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206. |
Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis. |
207. |
Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. |
208. |
Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. |
209. |
Thénié AC et al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. |
210. |
Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs. |
211. |
Girelli D et al. (2001) Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. |
212. |
Beutler E et al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. |
213. |
de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. |
214. |
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215. |
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216. |
Cardoso CS et al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? |
217. |
Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse. |
218. |
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219. |
Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. |
220. |
Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. |
221. |
McLeod JL et al. (2002) Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. |
222. |
Campagnoli MF et al. (2002) Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin. |
223. |
Poullis A et al. (2002) Clinical haemochromatosis in HFE mutation carriers. |
224. |
Drakesmith H et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages. |
225. |
McCune CA et al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. |
226. |
Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. |
227. |
Papanikolaou G et al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. |
228. |
Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. |
229. |
Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. |
230. |
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