Results 171 to 180 of about 24,501 (221)

A Decreasing North-to-South Gradient of <i>HFE</i> p.C282Y (rs1800562) Allele Frequencies in Iberia: An Analysis of 34 Population/Control Cohorts. [PDF]

Genes (Basel)
Barton JC, Barton JC, Acton RT.
europepmc   +1 more source

Hereditary Hemochromatosis and Hypertrophic Cardiomyopathy as Tier 1 Genomic Conditions: Implications for Adult Population Genomic Screening.

Public Health Genomics
Grosse SD, Khoury MJ, Dotson WD.
europepmc   +1 more source

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data

Genetics in Medicine, 2016
Purpose: The prevalence of HFE-related hereditary hemochromatosis (HH) among European populations has been well studied. There are no prevalence data for atypical forms of HH caused by mutations in HFE2, HAMP, TFR2, or SLC40A1.
Nathan V Subramaniam, Daniel F. Wallace
exaly   +2 more sources

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HFE and Non-HFE Hemochromatosis

International Journal of Hematology, 2002
Hereditary hemochromatosis (HH) is a disorder of iron metabolism in which enhanced absorption of dietary iron causes increased iron accumulation in the liver, heart, and pancreas. Most individuals with HH are homozygous for a point mutation in the HFE gene, leading to a C282Y substitution in the HFE protein.
Anderson, Gregory J., Powell, Lawrie W.
openaire   +4 more sources

Density, Surface Tension, and Kinematic Viscosity of Hydrofluoroethers HFE-7000, HFE-7100, HFE-7200, HFE-7300, and HFE-7500

Journal of Chemical & Engineering Data, 2015
The liquid density, liquid kinematic viscosity, and surface tension of the segregated hydrofluoroethers (HFEs) HFE-7000 (1,1,1,2,2,3,3-heptafluoro-3-methoxy-propane), HFE-7100 (mixture of the isomers 1,1,1,2,2,3,3,4,4-nonafluoro-4-methoxy-butane and 1,1,1,2,3,3-hexafluoro-3-methoxy-2-(trifluoromethyl)propane), HFE-7200 (mixture of the isomers 1-ethoxy ...
Michael H. Rausch, Lorenz Kretschmer, Stefan Will, Alfred Leipertz, Andreas P. Fröba   +4 more
openaire   +1 more source

Diagnostic Evaluation of Hereditary Hemochromatosis (HFE and Non-HFE)

Hematology/Oncology Clinics of North America, 2014
The management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism. HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity.
Bardou-Jacquet, Edouard, Brissot, Pierre
openaire   +2 more sources

HFE mutations in the elderly

Blood Cells, Molecules, and Diseases, 2003
Most individuals diagnosed with hereditary hemochromatosis have mutations in both copies of the HFE gene, with such mutations being common in populations of north European origin. The number of individuals currently diagnosed and treated for hemochromatosis is small relative to the number carrying two HFE mutations.
Willis, Gavin, Wimperis, Jennie Z., Smith, Katy, Fellows, Ian W., Jennings, Barbara A.   +4 more
openaire   +3 more sources

Polymorphisms in the HFE Gene

Human Heredity, 1999
Hereditary hemochromatosis is an autosomal recessive disease characterized by progressive iron overload. Recently, a candidate gene named HFE was isolated on the short arm of the chromosome 6 within which two mutations were identified: C282Y and H63D.
V, Douabin, R, Moirand, A, Jouanolle, P, Brissot, J, Le Gall, Y, Deugnier, V, David   +6 more
openaire   +2 more sources