Hämochromatose 5

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None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII.

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None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism.

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Cutler DJ et. al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.

Elzouki AN et. al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.

Hashimoto K et. al. (1995) A gene outside the human MHC related to classical HLA class I genes.

Calandro LM et. al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.

Jazwinska EC et. al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

Barton JC et. al. (1994) Blood lead concentrations in hereditary hemochromatosis.

None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.

Goei VL et. al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.

Yaouanq J et. al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

Jazwinska EC et. al. (1993) Localization of the hemochromatosis gene close to D6S105.

Deugnier YM et. al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.

el Kahloun A et. al. (1993) Localization of seven new genes around the HLA-A locus.

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.

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.

None (1996) Haemochromatosis: strike while the iron is hot.

Feder JN et. al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Totaro A et. al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.

Jazwinska EC et. al. (1996) Haemochromatosis and HLA-H.

Jouanolle AM et. al. (1996) Haemochromatosis and HLA-H.

Beutler E et. al. (1996) Mutation analysis in hereditary hemochromatosis.

Bulaj ZJ et. al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

Hashimoto K et. al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.

Roberts AG et. al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

Robson KJ et. al. (1997) Haemochromatosis: a gene at last?

Mercier B et. al. (1997) Putting a hold on 'HLA-H'.

Bodmer JG et. al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System.

Carella M et. al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

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.

Merryweather-Clarke AT et. al. (1997) Global prevalence of putative haemochromatosis mutations.

Feder JN et. al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

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Beutler E et. al. (1997) HLA-H mutations in the Ashkenazi Jewish population.

Beutler E et. al. (1997) HLA-H and associated proteins in patients with hemochromatosis.

Rhodes DA et. al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.

Jouanolle AM et. al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

Waheed A et. al. (1997) Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

Beckman LE et. al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.

Parkkila S et. al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.

None (1997) Haemochromatosis, HFE and genetic complexity.

Mura C et. al. (1997) Phenotype-genotype correlation in haemochromatosis subjects.

Camaschella C et. al. () Juvenile and adult hemochromatosis are distinct genetic disorders.

None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.

Feder JN et. al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

None (1998) Targeted disruption of the HFE gene.

Zhou XY et. al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.

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Cazzola M et. al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder.

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None (1998) Celtic origin of the C282Y mutation of hemochromatosis.

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Phatak PD et. al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients.

Brittenham GM et. al. (1998) Research priorities in hereditary hemochromatosis.

Waheed A et. al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.

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Fleming RE et. al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.

Roy CN et. al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.

Rochette J et. al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.

Merryweather-Clarke AT et. al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

Grove J et. al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.

Mura C et. al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

Roetto A et. al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q.

Camaschella C et. al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families.

Levy JE et. al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

Zoller H et. al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.

de Villiers JN et. al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

Jeffrey GP et. al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.

Olynyk JK et. al. (1999) A population-based study of the clinical expression of the hemochromatosis gene.

Pietrangelo A et. al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.

Gomez PS et. al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

Bahram S et. al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.

Noll WW et. al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

Willis G et. al. (2000) Incidence of liver disease in people with HFE mutations.

Hickman PE et. al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis.

Camaschella C et. al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

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Cairo G et. al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis.

Barton JC et. al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.

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Beutler E et. al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

de Juan D et. al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

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Cardoso CS et. al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?

Trinder D et. al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.

De Gobbi M et. al. (2002) Natural history of juvenile haemochromatosis.

Mattman A et. al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

Hofmann WK et. al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

Poullis A et. al. (2002) Clinical haemochromatosis in HFE mutation carriers.

Drakesmith H et. al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages.

McCune CA et. al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.

Roetto A et. al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Papanikolaou G et. al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.

Nicolas G et. al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

Muckenthaler M et. al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

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Halsall DJ et. al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.

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.

Rivard SR et. al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

Merryweather-Clarke AT et. al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

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Tomatsu S et. al. (2003) Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

Livesey KJ et. al. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

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None (2004) Hereditary hemochromatosis--a new look at an old disease.

Le Gac G et. al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Mehrany K et. al. (2004) Association of porphyria cutanea tarda with hereditary hemochromatosis.

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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.

Lee PL et. al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

Valenti L et. al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

McDermott JH et. al. (2005) Hypogonadism in hereditary hemochromatosis.

Gehrke SG et. al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.

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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.

Drakesmith H et. al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.

Rohrlich PS et. al. (2005) Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function.

Cremonesi L et. al. (2005) Genetic and clinical heterogeneity of ferroportin disease.

Matas M et. al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.

Barton JC et. al. (2006) Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study.

Sarić M et. al. (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.

Ludwiczek S et. al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.

Adams PC et. al. (2007) Haemochromatosis.

Allen KJ et. al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

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.

Waalen J et. al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

Davis TM et. al. (2008) Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.

Le Gac G et. al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

Benyamin B et. al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

Nairz M et. al. (2009) Absence of functional Hfe protects mice from invasive Salmonella enterica serovar Typhimurium infection via induction of lipocalin-2.

Brakensiek K et. al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

Cippà PE et. al. (2013) Increased height in HFE hemochromatosis.

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