A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Human Mutation

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-EPMID 10094552
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Prevalence of iron overload in central Sweden.

  2009cited by this paper
• Hemochromatosis after the gene discovery: revisiting the diagnostic strategy.

  1998cited by this paper
• The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

  1998cited by this paper
• Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation.

  1998cited by this paper
• Hemochromatosis-related mutation detection.

  1998cited by this paper
• Screening for hemochromatosis: phenotype versus genotype.

  1998cited by this paper
• The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population

  1998cited by this paper
• Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis.

  1998cited by this paper
• Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis

  1998cited by this paper
• A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population

  1998cited by this paper
• Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.

  1998cited by this paper
• A rapid non‐invasive method for the detection of the haemochromatosis C282Y mutation

  1997cited by this paper
• Global prevalence of putative haemochromatosis mutations.

  1997cited by this paper
• Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers.

  1997cited by this paper
• Rapid genetic screening for haemochromatosis using heteroduplex technology

  1997cited by this paper
• Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

  1997cited by this paper
• A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.

  1997cited by this paper
• A simple genetic test identifies 90% of UK patients with haemochromatosis

  1997cited by this paper
• A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England.

  1997cited by this paper
• Long-term survival in patients with hereditary hemochromatosis.

  1996cited by this paper
• Mutation analysis in hereditary hemochromatosis.

  1996cited by this paper
• A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

  1996cited by this paper
• Haemochromatosis and HLA–H

  1996cited by this paper
• Haemochromatosis and HLA–H

  1996cited by this paper
• Iron status in young Danish men and women: a population survey comprising 548 individuals

  1995cited by this paper
• Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database.

  1995cited by this paper
• History and Geography of Human Genes

  1994cited by this paper
• Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: An anonymous pilot study in Denmark

  1993cited by this paper
• Detection of mutation delta F508 in the cystic fibrosis gene using allele-specific PCR primers and time-resolved fluorometry.

  1992cited by this paper
• Prevalence of iron deficiency and iron overload in the adult Icelandic population.

  1991cited by this paper
• Screening for haemochromatosis: prevalence among Danish blood donors

  1991cited by this paper
• Prevalence of haemochromatosis amongst asymptomatic Australians

  1990cited by this paper
• Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

  1988cited by this paper
• Serum ferritin as a possible marker of the hemochromatosis allele.

  1979cited by this paper

• Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

  2019cites this paper
• The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

  2016cites this paper
• EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

  2015cites this paper
• Hemochromatosis: Niche Construction and the Genetic Domino Effect in the European Neolithic

  2015cites this paper
• Chapter 12 – Applications

  2014cites this paper
• Evaluación del estado en la reserva neonatal de hierro y las mutaciones del gen HFE

  2014cites this paper
• Newborn Screening for Congenital Disorders in Routine and Research

  2012cites this paper
• Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population

  2012cites this paper
• HFE mutation in Slavic populations : an east-west linear gradient in South Slavs

  2011cites this paper
• EASL clinical practice guidelines for HFE hemochromatosis.

  2010cites this paper
• Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men

  2008cites this paper
• Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

  2007cites this paper
• Storage policies and use of the Danish Newborn Screening Biobank

  2007cites this paper
• Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

  2005cites this paper
• Prevalence of Three Hereditary Hemochromatosis Mutant Alleles in the Michigan Caucasian Population

  2005cites this paper
• Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands

  2005cites this paper
• Countries of ancestry reported by hemochromatosis probands and control subjects in central Alabama.

  2004cites this paper
• Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes

  2004cites this paper
• Prevalence of the C282Y, H63D, and S65C Mutations of the HFE Gene in 1,146 Newborns from a Region of Northern Spain

  2004cites this paper
• Hemochromatosis mutations in the general population: iron overload progression rate.

  2004cites this paper
• A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?

  2003cites this paper
• Lessons from the past--looking to the future. Newborn screening.

  2003cites this paper
• Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

  2003cites this paper
• Frequencies of the Hereditary Hemochromatosis Allele in Different Populations. Comparison of Previous Phenotypic Methods and Novel Genotypic Methods

  2003cites this paper
• Health implications of iron overload: the role of diet and genotype.

  2003cites this paper
• Hemochromatosis Detection in a Health Screening Program at an Alabama Forest Products Mill

  2002cites this paper
• Screening for hemochromatosis.

  2002cites this paper
• Hemochromatosis Gene in Leukemia and Lymphoma

  2002cites this paper
• Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.

  2002cites this paper
• What’s new in hemochromatosis

  2001cites this paper
• HFE Gene and HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEWS HFE Gene and Hereditary Hemochromatosis: A HuGE Review

  2001influential citation
• Neonatal hemochromatosis.

  2001cites this paper
• Prevalence of HFE mutations in people from North Africa living in southern France

  2001influential citation
• Hemochromatosis in a Lithuanian with HFE C282Y homozygosity and C282Y allele frequencies in the Baltic Sea region

  2001cites this paper
• Hemochromatosis mutations C282Y and H63D in ‘cis’ phase

  2001cites this paper
• Frequency analysis and allele map in favor of the celtic origin of the C282Y mutation of hemochromatosis.

  2001cites this paper
• Iron status markers in 224 indigenous Greenlanders: influence of age, residence and traditional foods

  2001cites this paper
• HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.

  2001cites this paper
• Haemochromatosis: Where are all the Patients?

  2001cites this paper
• Hémochromatose

  2000cites this paper
• Transmission of HCV: the Portuguese case

  2000cites this paper
• DIAGNOSIS AND MANAGEMENT OF HAEMOCHROMATOSIS SINCE THE DISCOVERY OF THE HFE GENE: A EUROPEAN EXPERIENCE

  2000cites this paper
• Geography of HFE C282Y and H63D Mutations

  2000cites this paper
• [Genetic hemochromatosis and the HFE gene].

  2000cites this paper
• HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis

  2000cites this paper
• Population screening for hemochromatosis: Has the time finally come?

  2000cites this paper
• Hämochromatose – eine lebensbedrohliche Erkrankung mit einfacher Diagnose und Therapie

  2000cites this paper
• Screening for hereditary hemochromatosis

  2000cites this paper
• HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.

  2000cites this paper
• [Hemochromatosis].

  2000cites this paper
• Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.

  2000cites this paper
• Hereditary hemochromatosis.

  2000cites this paper
• A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology

  2000influential citation
• [French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Hemochromatosis].

  1999cites this paper
• Haemochromatosis and HFE gene.

  1999cites this paper
• Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

  1999cites this paper
• Biological specimen banks in neonatal screening

  1999cites this paper
• Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders Dupuytren's Contracture in Alabama Hfe Hemochromatosis Probands

  year unknowncites this paper
• Materials and Methods Association between Hemochromatosis Genotype and Lead Exposure among Elderly Men: the Normative Aging Study

  year unknowncites this paper