HuGE Literature Finder
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| Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis. Orphanet journal of rare diseases 2022 6 17 (1): 216. Zhang Wei, Li Yanmeng, Xu Anjian, Ouyang Qin, Wu Liyan, Zhou Donghu, Wu Lina, Zhang Bei, Zhao Xinyan, Wang Yu, Wang Xiaoming, Duan Weijia, Wang Qianyi, You Hong, Huang Jian, Ou Xiaojuan, Jia Jidong, |
| Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China. Orphanet journal of rare diseases 2021 09 16 (1): 398. Wu Liyan, Zhang Wei, Li Yanmeng, Zhou Donghu, Zhang Bei, Xu Anjian, Wu Zhen, Wu Lina, Li Shuxiang, Wang Xiaoming, Zhao Xinyan, Wang Qianyi, Li Min, Wang Yu, You Hong, Huang Jian, Ou Xiaojuan, Jia Jido |
| Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies. The American journal of clinical nutrition 2021 7 114 (4): 1408-1417. Julián-Serrano Sachelly, Yuan Fangcheng, Wheeler William, Benyamin Beben, Machiela Mitchell J, Arslan Alan A, Beane-Freeman Laura E, Bracci Paige M, Duell Eric J, Du Mengmeng, Gallinger Steven, Giles Graham G, Goodman Phyllis J, Kooperberg Charles, Marchand Loic Le, Neale Rachel E, Shu Xiao-Ou, Van Den Eeden Stephen K, Visvanathan Kala, Zheng Wei, Albanes Demetrius, Andreotti Gabriella, Ardanaz Eva, Babic Ana, Berndt Sonja I, Brais Lauren K, Brennan Paul, Bueno-de-Mesquita Bas, Buring Julie E, Chanock Stephen J, Childs Erica J, Chung Charles C, Fabiánová Eleonora, Foretová Lenka, Fuchs Charles S, Gaziano J Michael, Gentiluomo Manuel, Giovannucci Edward L, Goggins Michael G, Hackert Thilo, Hartge Patricia, Hassan Manal M, Holcátová Ivana, Holly Elizabeth A, Hung Rayjean I, Janout Vladimir, Kurtz Robert C, Lee I-Min, Malats Núria, McKean David, Milne Roger L, Newton Christina C, Oberg Ann L, Perdomo Sandra, Peters Ulrike, Porta Miquel, Rothman Nathaniel, Schulze Matthias B, Sesso Howard D, Silverman Debra T, Thompson Ian M, Wactawski-Wende Jean, Weiderpass Elisabete, Wenstzensen Nicolas, White Emily, Wilkens Lynne R, Yu Herbert, Zeleniuch-Jacquotte Anne, Zhong Jun, Kraft Peter, Li Dounghui, Campbell Peter T, Petersen Gloria M, Wolpin Brian M, Risch Harvey A, Amundadottir Laufey T, Klein Alison P, Yu Kai, Stolzenberg-Solomon Rachael |
| HIF1A: A Putative Modifier of Hemochromatosis. International journal of molecular sciences 2021 1 22 (3): . Pelucchi Sara, Ravasi Giulia, Arosio Cristina, Mauri Mario, Piazza Rocco, Mariani Raffaella, Piperno Alber |
| Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan. Molecular genetics & genomic medicine 2020 6 8 (9): e1310. Shah Maryam, Danish Lubna, Khan Najeeb U, Zaman Fakhar, Ismail Muhammad, Hussain Mehfooz, Pervaiz Ruqiya, Iqbal Aq |
| Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases. PloS one 2018 13 (3): e0193867. Tisato Veronica, Zuliani Giovanni, Vigliano Marco, Longo Giovanna, Franchini Eugenia, Secchiero Paola, Zauli Giorgio, Paraboschi Elvezia Maria, Vikram Singh Ajay, Serino Maria Luisa, Ortolani Beatrice, Zurlo Amedeo, Bosi Cristina, Greco Antonio, Seripa Davide, Asselta Rosanna, Gemmati Dona |
| Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease. Blood 2018 5 132 (1): 101-110. Sandhu Kam, Flintoff Kaledas, Chatfield Mark D, Dixon Jeannette L, Ramm Louise E, Ramm Grant A, Powell Lawrie W, Subramaniam V Nathan, Wallace Daniel |
| Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia. Indian journal of clinical biochemistry : IJCB 2018 10 33 (4): 479-482. Pandey S, Pandey S K, Shah |
| 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 |
| 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 |
| 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 |
| 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 |
| [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis]. Yi chuan = Hereditas 2015 1 36 (11): 1152-8. Yuanfeng Li, Hongxing Zhang, Haitao Zhang, Xiaobo Peng, Lili Bai, Fuchu He, Zewu Qiu, Gangqiao Zh |
| Sudden sensorineural hearing loss and polymorphisms in iron homeostasis genes: new insights from a case-control study. BioMed research international 2015 2015 834736. Castiglione Alessandro, Ciorba Andrea, Aimoni Claudia, Orioli Elisa, Zeri Giulia, Vigliano Marco, Gemmati Dona |
| The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene. Annals of hematology 2014 Dec 93 (12): 2063-6. Silva Bruno, Pita Lina, Gomes Susana, Gonçalves João, Faustino Pau |
| Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload. Genetic testing and molecular biomarkers 2010 Dec 14 (6): 803-6. de Lima Santos Paulo Caleb Júnior, Pereira Alexandre C, Cançado Rodolfo D, Schettert Isolmar T, Hirata Rosario D C, Hirata Mario H, Figueiredo Maria Stella, Chiattone Carlos S, Krieger Jose E, Guerra-Shinohara Elvira |
| Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Annals of hematology 2009 Oct 88 (10): 951-5. Altès Albert, Bach Vanessa, Ruiz Angels, Esteve Anna, Felez Jordi, Remacha Angel F, Sardà M Pilar, Baiget Montserr |
| 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 |
| Down-regulation of hepcidin in porphyria cutanea tarda. Blood 2008 Dec 112 (12): 4723-8. Ajioka Richard S, Phillips John D, Weiss Robert B, Dunn Diane M, Smit Maria W, Proll Sean C, Katze Michael G, Kushner James |
| 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 |
| 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, |
| Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. Acta haematologica 2006 1 115 (1-2): 102-5. Lee Pauline L, Barton James |
| HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 2004 Apr 103 (7): 2835-40. Jacolot Sandrine, Le Gac Gerald, Scotet Virginie, Quere Isabelle, Mura Catherine, Ferec Clau |
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- Page last updated:Mar 31, 2023
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