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Filters applied: . Clear all Unknown field was ignored: [Cys282Tyr]
Page 1
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP. Gallego CJ, et al. Am J Hum Genet. 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365338 Free PMC article.
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. ...We used the eMERGE Network, a multicenter cohort with gen
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonl …
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
Milet J, Dehais V, Bourgain C, Jouanolle AM, Mosser A, Perrin M, Morcet J, Brissot P, David V, Deugnier Y, Mosser J. Milet J, et al. Am J Hum Genet. 2007 Oct;81(4):799-807. doi: 10.1086/520001. Epub 2007 Aug 31. Am J Hum Genet. 2007. PMID: 17847004 Free PMC article.
Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations. ...In the present study, we tested the association between common variants in candidate gen …
Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys2
A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination.
Ogouma-Aworet L, Rabes JP, de Mazancourt P. Ogouma-Aworet L, et al. Biomed Res Int. 2020 Dec 28;2020:9396318. doi: 10.1155/2020/9396318. eCollection 2020. Biomed Res Int. 2020. PMID: 33457423 Free PMC article.
Hereditary hemochromatosis is an autosomal recessive disorder with incomplete penetrance that results from excess iron absorption and can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma. The most common form of hereditary h
Hereditary hemochromatosis is an autosomal recessive disorder with incomplete penetrance that results from excess iron …
Reduced phenotypic expression in genetic hemochromatosis with time: Role of exposure to non-genetic modifiers.
Deugnier Y, Morcet J, Lainé F, Hamdi-Roze H, Bollard AS, Guyader D, Moirand R, Bardou-Jacquet E. Deugnier Y, et al. J Hepatol. 2019 Jan;70(1):118-125. doi: 10.1016/j.jhep.2018.09.009. Epub 2018 Sep 21. J Hepatol. 2019. PMID: 30244162 Free article.
BACKGROUND & AIMS: Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency. Its low penetrance suggests the involvement of cofactors that modulate its express …
BACKGROUND & AIMS: Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the …
Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry.
Kim P, Weiskirchen S, Uerlings R, Kueppers A, Stellmacher F, Viveiros A, Zoller H, Weiskirchen R. Kim P, et al. BMC Med Imaging. 2018 Dec 4;18(1):51. doi: 10.1186/s12880-018-0291-3. BMC Med Imaging. 2018. PMID: 30514216 Free PMC article.
BACKGROUND: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the …
BACKGROUND: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 peo …
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Radio FC, et al. Blood Cells Mol Dis. 2015 Jun;55(1):71-5. doi: 10.1016/j.bcmd.2015.04.001. Epub 2015 Apr 16. Blood Cells Mol Dis. 2015. PMID: 25976471
Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic missense p.Cys282Tyr (c.845G>A) mutation in the HFE gene. However, the penet
Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or typ …
Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.
Pelucchi S, Galimberti S, Greni F, Rametta R, Mariani R, Pelloni I, Girelli D, Busti F, Ravasi G, Valsecchi MG, Valenti L, Piperno A. Pelucchi S, et al. J Gastroenterol Hepatol. 2016 Jul;31(7):1342-8. doi: 10.1111/jgh.13315. J Gastroenterol Hepatol. 2016. PMID: 26868056
BACKGROUND AND AIM: p.Cys282Tyr homozygosity is the prevalent genotype in (HFE)-related Hereditary Hemochromatosis with low penetrance and variable expression. ...RESULTS: The rs236918 allele C frequency increased from stages 0-2 t …
BACKGROUND AND AIM: p.Cys282Tyr homozygosity is the prevalent genotype in (HFE)-related Hereditary Hemochroma