HuGE Literature Finder
Records 1-22
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Role of TfR2-Y250X and TfR1- rs3817672 Single Nucleotide Polymorphism on Pathophysiology of Iron Deficiency Anemia.
The Journal of the Association of Physicians of India 2019 Nov 67 (11): 36-39. Pandey Sweta, Pandey Sanjay Kumar, Shah Vine |
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Analysis of polymorphism and hepatic expression of duodenal cytochrome b in chronic hepatitis C.
Journal of gastroenterology and hepatology 2017 Feb 32 (2): 482-486. Rudnicka Alina, Woziwodzka Anna, Wróblewska Anna, Rybicka Magda, Bielawski Krzysztof P, Sikorska Katarzyna, Bernat Agniesz |
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Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
Blood cells, molecules & diseases 2016 Oct 61 10-5. Faria Ricardo, Silva Bruno, Silva Catarina, Loureiro Pedro, Queiroz Ana, Fraga Sofia, Esteves Jorge, Mendes Diana, Fleming Rita, Vieira Luís, Gonçalves João, Faustino Pau |
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Rare HFE Variants are the Most Frequent Cause of Hemochromatosis in non C282Y Homozygous Patients with Hemochromatosis.
American journal of hematology 2016 Aug . Hamdi-Rozé Houda, Beaumont-Epinette Marie-Pascale, Ben Ali Zeineb, Le Lan Caroline, Loustaud Ratti Véronique, Causse Xavier, Loreal Olivier, Deugnier Yves, Brissot Pierre, Jouanolle Anne-Marie, Bardou-Jacquet Edoua |
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The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec . Wallace Daniel F, Subramaniam V Nath |
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The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.
Liver international : official journal of the International Association for the Study of the Liver 2015 Oct . Funakoshi Natalie, Chaze Iphigénie, Alary Anne-Sophie, Tachon Gaëlle, Cunat Séverine, Giansily-Blaizot Muriel, Bismuth Michael, Larrey Dominique, Pageaux Georges-Philippe, Schved Jean-François, Donnadieu-Rigole Hélène, Blanc Pierre, Aguilar-Martinez Patric |
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Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
Blood cells, molecules & diseases 2015 Jun 55 (1): 71-5. Radio Francesca Clementina, Majore Silvia, Aurizi Caterina, Sorge Fiammetta, Biolcati Gianfranco, Bernabini Sara, Giotti Irene, Torricelli Francesca, Giannarelli Diana, De Bernardo Carmelilia, Grammatico Pao |
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Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
Human molecular genetics 2014 Jul 23 (14): 3883-90. Stickel Felix, Buch Stephan, Zoller Heinz, Hultcrantz Rolf, Gallati Sabina, Österreicher Christoph, Finkenstedt Armin, Stadlmayr Andreas, Aigner Elmar, Sahinbegovic Enijad, Sarrazin Christoph, Schafmayer Clemens, Braun Felix, Erhart Wiebke, Nothnagel Michael, Lerch Markus M, Mayerle Julia, Völzke Henry, Schaller André, Kratzer Wolfgang, Boehm Bernhard O, Sipos Bence, D'Amato Mauro, Torkvist Leif, Stal Per, Arlt Alexander, Franke Andre, Becker Thomas, Krawczak Michael, Zwerina Jochen, Berg Thomas, Hinrichsen Holger, Krones Elisabeth, Dejaco Christian, Strasser Michael, Datz Christian, Hampe Joch |
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Nature communications 2014 5 4926. Benyamin Beben, Esko Tonu, Ried Janina S, Radhakrishnan Aparna, Vermeulen Sita H, Traglia Michela, Gögele Martin, Anderson Denise, Broer Linda, Podmore Clara, Luan Jian'an, Kutalik Zoltan, Sanna Serena, van der Meer Peter, Tanaka Toshiko, Wang Fudi, Westra Harm-Jan, Franke Lude, Mihailov Evelin, Milani Lili, Hälldin Jonas, Häldin Jonas, Winkelmann Juliane, Meitinger Thomas, Thiery Joachim, Peters Annette, Waldenberger Melanie, Rendon Augusto, Jolley Jennifer, Sambrook Jennifer, Kiemeney Lambertus A, Sweep Fred C, Sala Cinzia F, Schwienbacher Christine, Pichler Irene, Hui Jennie, Demirkan Ayse, Isaacs Aaron, Amin Najaf, Steri Maristella, Waeber Gérard, Verweij Niek, Powell Joseph E, Nyholt Dale R, Heath Andrew C, Madden Pamela A F, Visscher Peter M, Wright Margaret J, Montgomery Grant W, Martin Nicholas G, Hernandez Dena, Bandinelli Stefania, van der Harst Pim, Uda Manuela, Vollenweider Peter, Scott Robert A, Langenberg Claudia, Wareham Nicholas J, , van Duijn Cornelia, Beilby John, Pramstaller Peter P, Hicks Andrew A, Ouwehand Willem H, Oexle Konrad, Gieger Christian, Metspalu Andres, Camaschella Clara, Toniolo Daniela, Swinkels Dorine W, Whitfield John |
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TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
Blood cells, molecules & diseases 2013 Sep . Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, De Bernardo C, Morrone A, Grammatico P |
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Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Annals of hematology 2009 Mar 88 (3): 229-34. Mendes Ana Isabel, Ferro Ana, Martins Rute, Picanço Isabel, Gomes Susana, Cerqueira Rute, Correia Manuel, Nunes António Robalo, Esteves Jorge, Fleming Rita, Faustino Pau |
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Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
American journal of human genetics 2007 Oct 81 (4): 799-807. Milet Jacqueline, Dehais Valerie, Bourgain Catherine, Jouanolle Anne Marie, Mosser Annick, Perrin Michele, Morcet Jeff, Brissot Pierre, David Veronique, Deugnier Yves, Mosser Je |
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HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening.
Genetic testing 2007 11 (3): 269-75. Barton James C, Acton Ronald T, Leiendecker-Foster Catherine, Lovato Laura, Adams Paul C, McLaren Gordon D, Eckfeldt John H, McLaren Christine E, Reboussin David M, Gordeuk Victor R, Speechley Mark R, Reiss Jacob A, Press Richard D, Dawkins Fitzroy W, |
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Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
Physiological research / Academia Scientiarum Bohemoslovaca 2006 55 Suppl 2 (): S75-83. Frank J, Poblete-Gutiérrez P, Weiskirchen R, Gressner O, Merk H F, Lammert |
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Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.
Leukemia research 2005 Jun 29 (6): 661-4. Veneri Dino, Franchini Massimo, Krampera Mauro, de Matteis Giovanna, Solero Pietro, Pizzolo Giovan |
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Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005 May 14 (5): 1102-7. Abraham Benny K, Justenhoven Christina, Pesch Beate, Harth Volker, Weirich Gregor, Baisch Christian, Rabstein Sylvia, Ko Yon-Dschun, Brüning Thomas, Fischer Hans-Peter, Haas Susanne, Brod Sandra, Oberkanins Christian, Hamann Ute, Brauch Hiltrud, |
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Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Clinical chemistry 2003 Dec 49 (12): 1981-8. Biasiotto Giorgio, Belloli Silvana, Ruggeri Giuseppina, Zanella Isabella, Gerardi Gianmario, Corrado Marcella, Gobbi Elena, Albertini Alberto, Arosio Pao |
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Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
Haematologica 2003 Apr 88 (4): 396-401. De Gobbi Marco, Daraio Filomena, Oberkanins Christian, Moritz Anne, Kury Fritz, Fiorelli Gemino, Camaschella Cla |
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Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry.
Haematologica 2003 Mar 88 (3): 250-5. Salvioni Alessandra, Mariani Raffaella, Oberkanins Christian, Moritz Anne, Mauri Viviana, Pelucchi Sara, Riva Alessia, Arosio Cristina, Cerutti Paolo, Piperno Alber |
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Comprehensive hereditary hemochromatosis genotyping.
Tissue antigens 2002 Dec 60 (6): 481-8. Jones D C, Young N T, Pigott C, Fuggle S V, Barnardo M C N M, Marshall S E, Bunce |
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Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?
Blood cells, molecules & diseases 0 30 (1): 107-11. Chan Vivian, Wong Man Sim, Ooi Clara, Chen F E, Chim C S, Liang R H S, Todd D, Chan T |
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Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload.
Blood cells, molecules & diseases 0 27 (1): 279-84. Barton E H, West P A, Rivers C A, Barton J C, Acton R |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 27, 2021
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