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2021 1
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Page 1
Juvenile haemochromatosis.
Griffiths WJH, Besser M, Bowden DJ, Kelly DA. Griffiths WJH, et al. Lancet Child Adolesc Health. 2021 Jul;5(7):524-530. doi: 10.1016/S2352-4642(20)30392-8. Epub 2021 Apr 15. Lancet Child Adolesc Health. 2021. PMID: 33861982 Review.
MRI software techniques allow quantification of iron in these organs, and can therefore be used to monitor progress. Juvenile haemochromatosis is autosomal recessive and is generally associated with mutations in HJV (type 2A) or HAMP (type 2B). Mutations in T …
MRI software techniques allow quantification of iron in these organs, and can therefore be used to monitor progress. Juvenile haemochroma
Diabetes and hemochromatosis.
Creighton Mitchell T, McClain DA. Creighton Mitchell T, et al. Curr Diab Rep. 2014;14(5):488. doi: 10.1007/s11892-014-0488-y. Curr Diab Rep. 2014. PMID: 24682660 Review.
The common form of hereditary hemochromatosis is an autosomal recessive disorder most prevalent in Caucasians that results in excessive iron storage. ...Phlebotomy can ameliorate the defects in insulin secretion if initiated early. Screening a select population of individu …
The common form of hereditary hemochromatosis is an autosomal recessive disorder most prevalent in Caucasians that results in excessi …
HFE-associated hereditary hemochromatosis.
Alexander J, Kowdley KV. Alexander J, et al. Genet Med. 2009 May;11(5):307-13. doi: 10.1097/GIM.0b013e31819d30f2. Genet Med. 2009. PMID: 19444013 Free article. Review.
In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalent, and HFE-associated hereditary hemochromatosis is the most common type of inherited iron overload disorder. ...
In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalent, and HFE-associated hereditary hemo
Diagnostic morphology: biophysical indicators for iron-driven inflammatory diseases.
Pretorius E, Kell DB. Pretorius E, et al. Integr Biol (Camb). 2014 May;6(5):486-510. doi: 10.1039/c4ib00025k. Integr Biol (Camb). 2014. PMID: 24714688 Review.
Here we summarize recent microscopy-based observations to the effect that iron can have major effects on erythrocyte morphology, on erythrocyte deformability and on both fibrinogen polymerization and the consequent structure of the fibrin clots formed, each of which contributes s …
Here we summarize recent microscopy-based observations to the effect that iron can have major effects on erythrocyte morphology, on erythroc …
Reclassifying Hepatic Cell Death during Liver Damage: Ferroptosis-A Novel Form of Non-Apoptotic Cell Death?
Macías-Rodríguez RU, Inzaugarat ME, Ruiz-Margáin A, Nelson LJ, Trautwein C, Cubero FJ. Macías-Rodríguez RU, et al. Int J Mol Sci. 2020 Feb 28;21(5):1651. doi: 10.3390/ijms21051651. Int J Mol Sci. 2020. PMID: 32121273 Free PMC article. Review.
Ferroptosis has emerged as a new type of cell death in different pathological conditions, including neurological and kidney diseases and, especially, in different types of cancer. ...Iron overload in the liver has long been recognized as both a major trigger of liver damag …
Ferroptosis has emerged as a new type of cell death in different pathological conditions, including neurological and kidney diseases …
Role of L-type Ca2+ channels in iron transport and iron-overload cardiomyopathy.
Oudit GY, Trivieri MG, Khaper N, Liu PP, Backx PH. Oudit GY, et al. J Mol Med (Berl). 2006 May;84(5):349-64. doi: 10.1007/s00109-005-0029-x. Epub 2006 Apr 8. J Mol Med (Berl). 2006. PMID: 16604332 Free PMC article. Review.
Excessive body iron or iron overload occurs under conditions such as primary (hereditary) hemochromatosis and secondary iron overload (hemosiderosis), which are reaching epidemic levels worldwide. ...Fe2+ uptake through L-type Ca2+ channels may also be crucial in ot …
Excessive body iron or iron overload occurs under conditions such as primary (hereditary) hemochromatosis and secondary iron overload …
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.
Fregonese L, Stolk J. Fregonese L, et al. Orphanet J Rare Dis. 2008 Jun 19;3:16. doi: 10.1186/1750-1172-3-16. Orphanet J Rare Dis. 2008. PMID: 18565211 Free PMC article. Review.
Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and airflow obstruction early in adult life. ...Differential diagnoses should exclude bleeding disorders or jaundice, viral infection, hemochrom
Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and air
Expression and function of iron-regulatory proteins in retina.
Gnana-Prakasam JP, Martin PM, Smith SB, Ganapathy V. Gnana-Prakasam JP, et al. IUBMB Life. 2010 May;62(5):363-70. doi: 10.1002/iub.326. IUBMB Life. 2010. PMID: 20408179 Free PMC article. Review.
Recent studies have shown that all five genes that are associated with hemochromatosis are expressed in the retina in a cell type-specific manner. ...Retinal iron homeostasis is disrupted in various clinical conditions such as hemochromatosis, aceruloplasmine …
Recent studies have shown that all five genes that are associated with hemochromatosis are expressed in the retina in a cell type
Porphyria cutanea tarda--when skin meets liver.
Frank J, Poblete-Gutiérrez P. Frank J, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955974 Review.
At least two different types of PCT are currently distinguished: an acquired variant, also referred to as sporadic or type I PCT, in which the enzymatic deficiency is limited to the liver; and an autosomal dominantly inherited form, also known as familial or type II …
At least two different types of PCT are currently distinguished: an acquired variant, also referred to as sporadic or type I PCT, in …
Survival advantage of the hemochromatosis C282Y mutation.
Weinberg ED. Weinberg ED. Perspect Biol Med. 2008 Winter;51(1):98-102. doi: 10.1353/pbm.2008.0001. Perspect Biol Med. 2008. PMID: 18192769 Review.
The hemochromatosis C282Y mutation is present in up to 12.5% of people in populations of northern and central European origin. The prevalence of this mutation suggests that it may confer some type of epidemiologic advantage. One hypothesis has proposed that f …
The hemochromatosis C282Y mutation is present in up to 12.5% of people in populations of northern and central European origin. …
21 results