Publications:

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Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y.

Plos One

Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT

Publication Date: 2022

Variant appearance in text: HFE: 502G>C; E168Q

PubMed Link: 35895739

Variant Present in the following documents:

• Main text
• pone.0271973.pdf

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

American Journal Of Cancer Research

Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR

Publication Date: 2021

Variant appearance in text: HFE: E168Q

PubMed Link: 33791166

Variant Present in the following documents:

• Main text

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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Science (New York, N.Y.)

Bastarache, Lisa L; Hughey, Jacob J JJ; Hebbring, Scott S; Marlo, Joy J; Zhao, Wanke W; Ho, Wanting T WT; Van Driest, Sara L SL; McGregor, Tracy L TL; Mosley, Jonathan D JD; Wells, Quinn S QS; Temple, Michael M; Ramirez, Andrea H AH; Carroll, Robert R; Osterman, Travis T; Edwards, Todd T; Ruderfer, Douglas D; Velez Edwards, Digna R DR; Hamid, Rizwan R; Cogan, Joy J; Glazer, Andrew A; Wei, Wei-Qi WQ; Feng, QiPing Q; Brilliant, Murray M; Zhao, Zhizhuang J ZJ; Cox, Nancy J NJ; Roden, Dan M DM; Denny, Joshua C JC

Publication Date: 2018-03-16

Variant appearance in text: HFE: 502G>C; Glu168Gln; rs146519482

PubMed Link: 29590070

Variant Present in the following documents:

• Main text

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Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood Transfusion = Trasfusione Del Sangue

Ferbo, Ludovica L; Manzini, Paola M PM; Badar, Sadaf S; Campostrini, Natascia N; Ferrarini, Alberto A; Delledonne, Massimo M; Francisci, Tiziana T; Tassi, Valter V; Valfrè, Adriano A; Dall'omo, Anna M AM; D'antico, Sergio S; Girelli, Domenico D; Roetto, Antonella A; De Gobbi, Marco M

Publication Date: 2016-11

Variant appearance in text: HFE: E168Q

PubMed Link: 27177411

Variant Present in the following documents:

• Main text

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HFE gene: Structure, function, mutations, and associated iron abnormalities.

Gene

Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT

Publication Date: 2015-12-15

Variant appearance in text: HFE: E168Q

PubMed Link: 26456104

Variant Present in the following documents:

• Main text

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Molecular basis of HFE-hemochromatosis.

Frontiers In Pharmacology

Vujić, Maja M

Publication Date: 2014

Variant appearance in text: HFE: E168Q

PubMed Link: 24653703

Variant Present in the following documents:

• Main text
• fphar-05-00042.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: HFE: E168Q

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Lymphocyte subsets in alcoholic liver disease.

World Journal Of Hepatology

Matos, Luís Costa LC; Batista, Paulo P; Monteiro, Nuno N; Ribeiro, João J; Cipriano, Maria A MA; Henriques, Pedro P; Girão, Fernando F; Carvalho, Armando A

Publication Date: 2013-02-27

Variant appearance in text: HFE: E168Q

PubMed Link: 23646229

Variant Present in the following documents:

• Main text

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: HFE: Glu168Gln

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: HFE: Glu168Gln

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Chandrasekharan, Subhashini S; Pitlick, Emily E; Heaney, Christopher C; Cook-Deegan, Robert R

Publication Date: 2010-04

Variant appearance in text: HFE: E168Q

PubMed Link: 20393306

Variant Present in the following documents:

• Main text

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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)

Bittencourt, Paulo Lisboa PL; Marin, Maria Lúcia Carnevale ML; Couto, Cláudia Alves CA; Cançado, Eduardo Luiz Rachid EL; Carrilho, Flair José FJ; Goldberg, Anna Carla AC

Publication Date: 2009

Variant appearance in text: HFE: E168Q

PubMed Link: 19759876

Variant Present in the following documents:

• Main text
• cln64_9p837.pdf

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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Haematologica

Andreani, Marco M; Radio, Francesca Clementina FC; Testi, Manuela M; De Bernardo, Carmelilia C; Troiano, Maria M; Majore, Silvia S; Bertucci, Pierfrancesco P; Polchi, Paola P; Rosati, Renata R; Grammatico, Paola P

Publication Date: 2009-09

Variant appearance in text: HFE: E168Q

PubMed Link: 19734422

Variant Present in the following documents:

• Main text

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Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

World Journal Of Gastroenterology

Licata, Anna A; Nebbia, Maria Elena ME; Cabibbo, Giuseppe G; Iacono, Giovanna Lo GL; Barbaria, Francesco F; Brucato, Virna V; Alessi, Nicola N; Porrovecchio, Salvatore S; Di Marco, Vito V; Craxì, Antonio A; Cammà, Calogero C

Publication Date: 2009-05-07

Variant appearance in text: HFE: E168Q

PubMed Link: 19418586

Variant Present in the following documents:

• Main text

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Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.

Gut

Sartori, Massimo M; Andorno, Silvano S; Pagliarulo, Michela M; Rigamonti, Cristina C; Bozzola, Cristina C; Pergolini, Patrizia P; Rolla, Roberta R; Suno, Anna A; Boldorini, Renzo R; Bellomo, Giorgio G; Albano, Emanuele E

Publication Date: 2007-05

Variant appearance in text: HFE: E168Q

PubMed Link: 17135308

Variant Present in the following documents:

• Main text

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