Published in Hum Mutat on January 01, 1999
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet (2000) 1.89
Storage policies and use of the Danish Newborn Screening Biobank. J Inherit Metab Dis (2007) 1.47
HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut (2000) 1.47
Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study. Environ Health Perspect (2004) 1.15
Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? J Med Genet (2005) 1.08
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet (2007) 1.07
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet (2015) 0.81
Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs. Croat Med J (2011) 0.76
The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic. Am J Phys Anthropol (2016) 0.75
Dupuytren's Contracture in Alabama HFE Hemochromatosis Probands. Clin Med Insights Arthritis Musculoskelet Disord (2012) 0.75
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry (1985) 4.78
Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet (1986) 4.71
TRAP is necessary for gliding motility and infectivity of plasmodium sporozoites. Cell (1997) 4.65
Enhanced immunogenicity for CD8+ T cell induction and complete protective efficacy of malaria DNA vaccination by boosting with modified vaccinia virus Ankara. Nat Med (1998) 4.13
Global prevalence of putative haemochromatosis mutations. J Med Genet (1997) 4.03
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet (1985) 3.77
Neurobehavioral deficits associated with PCB in 7-year-old children prenatally exposed to seafood neurotoxicants. Neurotoxicol Teratol (2001) 2.85
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature (1984) 2.82
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74
Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Danish Congenital Toxoplasmosis Study Group . Lancet (1999) 2.54
Neonatal levels of neurotrophic factors and risk of autism spectrum disorders. Acta Psychiatr Scand (2012) 2.08
Genetic predisposition to adverse consequences of anti-cholinesterases in 'atypical' BCHE carriers. Nat Med (1995) 1.87
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res (1987) 1.86
[Maternal serum screening for congenital abnormalities and Down syndrome in Sønderjylland County. Eight years of experience]. Ugeskr Laeger (1999) 1.74
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc Natl Acad Sci U S A (1982) 1.69
Geography of HFE C282Y and H63D mutations. Genet Test (2000) 1.62
Respiratory syncytial virus infection--risk factors for hospital admission: a case-control study. Acta Paediatr (2003) 1.53
Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients. Rheumatology (Oxford) (2006) 1.52
The A-domain and the thrombospondin-related motif of Plasmodium falciparum TRAP are implicated in the invasion process of mosquito salivary glands. EMBO J (1999) 1.47
Sequence homology between human alpha 1-antichymotrypsin, alpha 1-antitrypsin, and antithrombin III. Biochemistry (1983) 1.43
The PKU locus in man is on chromosome 12. Am J Hum Genet (1984) 1.42
Sensitivity and specificity of CA242 in gastro-intestinal cancer. A comparison with CEA, CA50 and CA 19-9. Br J Cancer (1992) 1.39
Technical note: assessment of X-ray field alignment in mammography. Br J Radiol (1993) 1.39
New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet (1995) 1.38
Latent image fading and mean glandular dose in mobile mammographic screening. Br J Radiol (1992) 1.38
Construction and identification of mouse amelogenin cDNA clones. Proc Natl Acad Sci U S A (1983) 1.29
Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis (2007) 1.18
Nucleotide sequence of a human 5S rRNA gene. Nucleic Acids Res (1990) 1.18
The Thrombospondin-related Protein Family of Apicomplexan Parasites: The Gears of the Cell Invasion Machinery. Parasitol Today (1998) 1.17
Uncommon mutations and polymorphisms in the hemochromatosis gene. Genet Test (2000) 1.14
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet (2009) 1.11
Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet (1999) 1.06
Gas sensing using air-guiding photonic bandgap fibers. Opt Express (2004) 1.05
Pelvic and perineal complications of Crohn's disease: assessment using magnetic resonance imaging. Gut (1995) 1.05
Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Ann Rheum Dis (2005) 1.05
Broadly distributed T cell reactivity, with no immunodominant loci, to the pre-erythrocytic antigen thrombospondin-related adhesive protein of Plasmodium falciparum in West Africans. Eur J Immunol (1999) 1.04
Screening for Down's syndrome using an iso-risk curve based on maternal age and serum alpha-fetoprotein level. Br J Obstet Gynaecol (1987) 1.03
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet (2000) 1.02
Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis. Rheumatology (Oxford) (2008) 1.02
Placental alkaline phosphatase in testicular germ cell tumours and in carcinoma-in-situ of the testis. An immunohistochemical study. Acta Pathol Microbiol Immunol Scand A (1984) 1.01
Oral clefts, transforming growth factor alpha gene variants, and maternal smoking: a population-based case-control study in Denmark, 1991-1994. Am J Epidemiol (1999) 1.01
Misuse of ecstasy. BMJ (1992) 1.00
Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis. Hum Mol Genet (1994) 0.99
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Eur J Hum Genet (2001) 0.98
Acupuncture versus metoprolol in migraine prophylaxis: a randomized trial of trigger point inactivation. J Intern Med (1994) 0.98
Alpha-fetoprotein in plasma and serum of healthy adults: preanalytical, analytical and biological sources of variation and construction of age-dependent reference intervals. Scand J Clin Lab Invest (2001) 0.98
MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients. Rheumatology (Oxford) (2006) 0.98
Thrombospondin-related adhesive protein (TRAP) of Plasmodium berghei and parasite motility. Lancet (1997) 0.97
Potential of radioimmunoassay of myoglobin in amniotic fluid and serum in prenatal diagnosis of Duchenne muscular dystrophy. Lancet (1978) 0.97
High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum Genet (1997) 0.97
Feto-maternal haemorrhage associated with genetic amniocentesis: results of a randomized trial. Br J Obstet Gynaecol (1987) 0.97
Prenatal diagnosis of classical phenylketonuria by gene mapping. JAMA (1984) 0.96
An assessment by competition hybridization of the sequence homology between the RNAs of the seven serotypes of FMDV. J Gen Virol (1977) 0.95
The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br J Haematol (1998) 0.95
Enzyme immunoassay of human cholinesterase (EC 3.1.1.8). Comparison of immunoreactive substance concentration with catalytic activity concentration in randomly selected serum samples from healthy individuals. J Clin Chem Clin Biochem (1990) 0.95
Enzyme-linked immunosorbent assay of the D2-glycoprotein. J Neurochem (1983) 0.95
Comparative biochemical and serological analysis of five isolates of a single serotype of foot-and-mouth disease virus. J Gen Virol (1979) 0.93
Relation of eeg and seizures to phenobarbital in serum. Arch Neurol (1968) 0.93
Biological specimen banks in neonatal screening. Acta Paediatr Suppl (1999) 0.93
Interleukin-1 promoter region polymorphism role in rheumatoid arthritis: a meta-analysis of IL-1B-511A/G variant reveals association with rheumatoid arthritis. Rheumatology (Oxford) (2008) 0.92
Sequence comparison of rat liver phenylalanine hydroxylase and its cDNA clones. Biochemistry (1984) 0.92
Postoperative radiotherapy in rectosigmoid cancer Dukes' B and C: interim report from a randomized multicentre study. Br J Cancer (1982) 0.92
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. J Med Genet (2004) 0.91
Biochemical aspects of variation in foot-and-mouth disease virus. J Gen Virol (1980) 0.91
Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays. Clin Endocrinol (Oxf) (1998) 0.90
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab (1998) 0.90
Analysis of killer immunoglobulin-like receptor genes in ankylosing spondylitis. Ann Rheum Dis (2008) 0.90
Comparison of Kistler 9861A force platform and Chattecx Balance System for measurement of postural sway: correlation and test-retest reliability. Scand J Med Sci Sports (2003) 0.90
alpha-fetoprotein levels in maternal serum during pregnancy and maternal breast cancer incidence. J Natl Cancer Inst (2000) 0.90
A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med (2003) 0.90
Second-trimester maternal serum alpha-fetoprotein and risk of adverse pregnancy outcome(1). Obstet Gynecol (2001) 0.89
Simultaneous quantitation of diphtheria and tetanus antibodies by double antigen, time-resolved fluorescence immunoassay. J Immunol Methods (1996) 0.89
Pfmrk, a MO15-related protein kinase from Plasmodium falciparum. Gene cloning, sequence, stage-specific expression and chromosome localization. Eur J Biochem (1996) 0.89
Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta Paediatr (2002) 0.89
Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles. Am J Med Genet (2000) 0.88
Recent advances in understanding haemochromatosis: a transition state. J Med Genet (2004) 0.88
Serum myoglobin compared with creatine kinase in patients with acute myocardial infarction. Acta Med Scand (1980) 0.88
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Clin Chem (2001) 0.87
Tumour markers in testicular germ cell tumours. Five-year experience from the DATECA Study 1976-1980. Acta Radiol Oncol (1984) 0.87
Persistent keratoacanthoma: challenges in management. Dermatol Surg (1998) 0.87
Thrombospondin related adhesive protein (TRAP), a potential malaria vaccine candidate. Parassitologia (1999) 0.86
Serum alpha-fetoprotein and human chorionic gonadotropin as markers for the effect of postoperative radiation therapy and/or chemotherapy in testicular cancer. Cancer (1978) 0.86
Transcripts of the multidrug resistance genes in chloroquine-sensitive and chloroquine-resistant Plasmodium falciparum. Parasitology (1993) 0.86
Improved first-trimester Down syndrome screening performance by lowering the false-positive rate: a prospective study of 9941 low-risk women. Ultrasound Obstet Gynecol (2005) 0.85
Ciprofloxacin and malaria. Lancet (1988) 0.85
Pre-treatment prediction of chemoresistance in second-line chemotherapy of ovarian carcinoma: value of serological tumor marker determination (tetranectin, YKL-40, CASA, CA 125). Int J Biol Markers (2006) 0.85