Geography of HFE C282Y and H63D mutations.
暂无分享,去创建一个
[1] N. Olivieri,et al. Secondary iron overload. , 2001, Hematology. American Society of Hematology. Education Program.
[2] Robson,et al. DIAGNOSIS AND MANAGEMENT OF HAEMOCHROMATOSIS SINCE THE DISCOVERY OF THE HFE GENE: A EUROPEAN EXPERIENCE , 2000, British journal of haematology.
[3] G. Porto,et al. Hemochromatosis: Variation of hemochromatosis prevalence and genotype in national groups , 2000 .
[4] M. Oellerich,et al. C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in bulgaria , 1999, Hepatology.
[5] F. Costa,et al. Mutation analysis of the HFE gene in Brazilian populations. , 1999, Blood cells, molecules & diseases.
[6] I. Balogh,et al. The frequency of the haemochromatosis C282Y mutation in the ethnic Hungarian and Romany populations of eastern Hungary , 1999, British journal of haematology.
[7] J. J. Pointon,et al. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results , 1999, Nature Genetics.
[8] R. Ries,et al. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results , 1999, Nature Genetics.
[9] G. Tsongalis,et al. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population. , 1999, International journal of molecular medicine.
[10] J. Sixma,et al. Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women. , 1999, Circulation.
[11] T. Lakka,et al. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland. , 1999, Circulation.
[12] J. Olynyk,et al. A population-based study of the clinical expression of the hemochromatosis gene. , 1999, The New England journal of medicine.
[13] M. Somerville,et al. An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis. , 1999, American journal of human genetics.
[14] J. Horák,et al. [Hemochromatosis. Determination of the C282Y mutation frequency in the population of the Czech Republic and sensitivity of hemochromatosis detection using Guthrie cards]. , 1999, Casopis lekaru ceskych.
[15] M. Kotze,et al. Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis. , 1999, Blood cells, molecules & diseases.
[16] Z. Miedzybrodzka,et al. Haemochromatosis mutations in North‐East Scotland , 1999, British journal of haematology.
[17] R. Hegele,et al. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis , 1999, Nature Genetics.
[18] J. Barton,et al. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. , 1999, Blood cells, molecules & diseases.
[19] M. Schwartz,et al. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR–SSCP: detection of a new polymorphic mutation , 1999, Annals of human genetics.
[20] J. J. Pointon,et al. Multicentric origin of hemochromatosis gene (HFE) mutations. , 1999, American journal of human genetics.
[21] M. Kotze,et al. High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa. , 1999, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.
[22] J. L. Le Gall,et al. Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives. , 1999, Gastroenterology.
[23] A. Piga,et al. The influence of hemochromatosis mutations on iron overload of thalassemia major. , 1999, Haematologica.
[24] B. No̸rgaard-Pedersen,et al. A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations , 1999, Human mutation.
[25] J. Plange-Rhule,et al. Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder. , 1999, Genetic testing.
[26] J. Berg,et al. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. , 1999, Scandinavian journal of gastroenterology.
[27] T. Löffler,et al. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. , 2008, Tissue antigens.
[28] P. Pignatti,et al. The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated , 1998, British journal of haematology.
[29] J. Crowe,et al. Hemochromatosis in Ireland and HFE. , 1998, Blood cells, molecules & diseases.
[30] R. Fischer,et al. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany , 1998, British journal of haematology.
[31] Mayka Sánchez,et al. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls , 1998 .
[32] D. Middleton,et al. High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis. , 1998, Tissue antigens.
[33] A. Tordai,et al. High frequency of the haemochromatosis C282Y mutation in Hungary could argue against a Celtic origin of the mutation. , 1998, Journal of medical genetics.
[34] A. Macphail,et al. Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? , 1998, British journal of haematology.
[35] R. Steffensen,et al. Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers. , 1998, Tissue antigens.
[36] M. Barceló,et al. Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain. , 1998, Journal of medical genetics.
[37] J. Grove,et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease , 1998, Gut.
[38] G. Feldman,et al. Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans , 1998, American journal of hematology.
[39] G. Lucotte,et al. Frequency of the C282Y mutation of hemochromatosis in five French populations. , 1998, Blood cells, molecules & diseases.
[40] S. Easteal,et al. The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. , 1998, American journal of human genetics.
[41] M. Evans,et al. Salmonella typhi uses CFTR to enter intestinal epithelial cells , 1998, Nature.
[42] M. Worwood,et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population , 1998, British journal of haematology.
[43] R. Wolff,et al. A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region , 1998, Human Genetics.
[44] P. Bjorkman,et al. Crystal Structure of the Hemochromatosis Protein HFE and Characterization of Its Interaction with Transferrin Receptor , 1998, Cell.
[45] S. Marshall,et al. A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population , 1998, Gut.
[46] R. Wolff,et al. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis , 1998, Immunogenetics.
[47] D. Hãussinger,et al. Screening for Hemochromatosis and Iron Deficiency in Employees and Primary Care Patients in Western Germany , 1998, Annals of Internal Medicine.
[48] J. Haddow,et al. Hereditary haemochromatosis mutation frequencies in the general population , 1998, Journal of medical screening.
[49] F. Geffroy,et al. Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany , 1998, Human Genetics.
[50] Esin,et al. HFE mutations in patients with hereditary haemochromatosis in Sweden , 1998, Journal of internal medicine.
[51] D. M. Penny,et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[52] G. Lucotte,et al. Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families. , 1998, Genetic counseling.
[53] N. Risch. Haemochromatosis HFE and genetic complexity , 1997, Nature Genetics.
[54] Roger Williams,et al. A simple genetic test identifies 90% of UK patients with haemochromatosis , 1997, Gut.
[55] C. Datz,et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. , 1997, Journal of hepatology.
[56] H. Soejima,et al. Efficient large-scale screening for the hemochromatosis susceptibility gene mutation. , 1997, Blood.
[57] P. Fergelot,et al. A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations , 1997, Human Genetics.
[58] J. Trowsdale,et al. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. , 1997, Journal of medical genetics.
[59] I. Fellows,et al. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England. , 1997, Blood cells, molecules & diseases.
[60] R. Baumgartner,et al. Impact of HLA-H mutations on iron stores in healthy elderly men and women. , 1997, Blood cells, molecules & diseases.
[61] E. Beutler,et al. New diallelic markers in the HLA region of chromosome 6. , 1997, Blood cells, molecules & diseases.
[62] P. Jeanjean,et al. Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease? , 1997, Blood cells, molecules & diseases.
[63] C. Ou,et al. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases. , 1997, Blood cells, molecules & diseases.
[64] P. Brissot,et al. Clinical Features of Genetic Hemochromatosis in Women Compared with Men , 1997, Annals of Internal Medicine.
[65] L. Beckman,et al. Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. , 1997, Human heredity.
[66] L. Jorde,et al. Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. , 1997, American journal of human genetics.
[67] J. Chang,et al. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction--a very rare mutation in the Chinese population. , 1997, Blood.
[68] D. Girelli,et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. , 1997, American journal of human genetics.
[69] E. Beutler,et al. HLA-H mutations in the Ashkenazi Jewish population. , 1997, Blood cells, molecules & diseases.
[70] J. Barton,et al. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. , 1997, Blood cells, molecules & diseases.
[71] Jennifer J. Pointon,et al. Global prevalence of putative haemochromatosis mutations. , 1997, Journal of medical genetics.
[72] M. Worwood,et al. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda , 1997, The Lancet.
[73] E. Thompson,et al. Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. , 1997, American journal of human genetics.
[74] J. Vinel,et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients , 1997, Immunogenetics.
[75] C. P. Morris,et al. Haemochromatosis and HLA–H , 1996, Nature Genetics.
[76] P. Fergelot,et al. Haemochromatosis and HLA–H , 1996, Nature Genetics.
[77] C. Venditti,et al. Mutation analysis in hereditary hemochromatosis. , 1996, Blood cells, molecules & diseases.
[78] M. C. Ellis,et al. A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis , 1996, Nature Genetics.
[79] J. Haywood. The Penguin Historical Atlas of the Vikings , 1995 .
[80] R. Cann. The history and geography of human genes , 1995, The Journal of Asian Studies.
[81] M. Worwood,et al. Serum ferritin, blood donation, iron stores and haemochromatosis , 1993, Transfusion medicine.
[82] P. H. Petersen,et al. Screening for haemochromatosis: prevalence among Danish blood donors , 1991, Journal of internal medicine.
[83] B. Thjódleifsson,et al. Prevalence of iron deficiency and iron overload in the adult Icelandic population. , 1991, Journal of clinical epidemiology.
[84] B. Leggett,et al. Prevalence of haemochromatosis amongst asymptomatic Australians , 1990, British journal of haematology.
[85] M. Skolnick,et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. , 1988, The New England journal of medicine.
[86] N. Milman,et al. HLA determinants in 70 Danish patients with idiopathic haemochromatosis , 1988, Clinical genetics.
[87] R. Fauchet,et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. , 1987, American journal of human genetics.
[88] R. Fauchet,et al. Serum ferritin as a possible marker of the hemochromatosis allele. , 1979, The New England journal of medicine.
[89] M. Simon. Genetics of hemochromatosis. , 1979, The New England journal of medicine.
[90] R. N. Macsween,et al. Hepatic cirrhosis: A clinico-pathological review of 520 cases , 1973, Journal of clinical pathology.
[91] A. G. Steinberg,et al. Progress in Medical Genetics , 1970 .