HuGE Literature Finder
Records 1-30
|
Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
Blood cells, molecules & diseases 2020 Jul 85 102463. Secondes Eriza S, Wallace Daniel F, Rishi Gautam, McLaren Gordon D, McLaren Christine E, Chen Wen-Pin, Ramm Louise E, Powell Lawrie W, Ramm Grant A, Barton James C, Subramaniam V Nath |
|
Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.
Clinics and research in hepatology and gastroenterology 2019 Oct . Borgel Adrien, Lamoril Jérôme, Tchernitchko Dimit |
|
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
Saudi medical journal 2019 Sep 40 (9): 887-892. Sharif Yasir, Irshad Saba, Tariq Anam, Rasheed Sana, Tariq Muhammad |
|
Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients.
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2019 May . Rahmani Romina, Naseri Parisa, Safaroghli-Azar Ava, Tarighi Shahriar, Hosseini Tahereh, Hojjati Mohammad Tah |
|
[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].
Zhongguo shi yan xue ye xue za zhi 2019 Apr 27 (2): 618-622. Sun Shu-Yao, Guo Yan-Hong, Sun Zeng-Mei, Wu Yun-Hong, Li Ming-X |
|
-?174 G>C IL-6 polymorphism and primary iron overload in male patients.
Annals of hematology 2018 Apr . Tetzlaff Walter F, Meroño Tomás, Botta Eliana E, Martín Maximiliano E, Sorroche Patricia B, Boero Laura E, Castro Marcelo, Frechtel Gustavo D, Rey Jorge, Daruich Jorge, Cerrone Gloria E, Brites Fernan |
|
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study.
PloS one 2018 13 (11): e0207415. Oppl Bastian, Husar-Memmer Emma, Pfefferkorn Svea, Blank Martha, Zenz Peter, Gollob Eva, Wurnig Christian, Engel Alfred, Stadlmayr Andreas, Uyanik Gökhan, Brozek Wolfgang, Klaushofer Klaus, Zwerina Jochen, Datz Christi |
|
Ethnic and genetic factors of iron status in women of reproductive age.
The American journal of clinical nutrition 2017 Oct . Gordeuk Victor R, Brannon Patsy |
Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): Potential genomic intersection of iron and glucose regulation?
Human molecular genetics 2017 Mar . Raffield Laura M, Louie Tin, Sofer Tamar, Jain Deepti, Ipp Eli, Taylor Kent D, Papanicolaou George J, Avilés-Santa Larissa, Lange Leslie A, Laurie Cathy C, Conomos Matthew P, Thornton Timothy A, Ida Chen Yii-Der, Qi Qibin, Cotler Scott, Thyagarajan Bharat, Schneiderman Neil, Rotter Jerome I, Reiner Alex P, Lin Henry |
|
HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study.
Hematology (Amsterdam, Netherlands) 2017 Feb 1-7. El-Rashedi Farida H, El-Hawy Mahmoud A, El-Hefnawy Sally M, Mohammed Mona |
|
Minor variant of rs 16827043 in the iron regulator hemojuvelin gene (HJV) contributes to hypertension: The TAMRISK study.
Medicine 2017 Feb 96 (5): e6052. Nikkari Seppo T, Visto Anni-Laura, Määttä Kirsi M, Kunnas Tarja |
|
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 |
|
Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.
Open access Macedonian journal of medical sciences 2016 Jun 4 (2): 226-31. Enein Azza Aboul, El Dessouky Nermine A, Mohamed Khalda S, Botros Shahira K A, Abd El Gawad Mona F, Hamdy Mona, Dyaa Neh |
|
Effect of Hereditary Hemochromatosis Gene (HFE) H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients.
Turkish journal of haematology : official journal of Turkish Society of Haematology 2016 Apr . Terzi Yunus Kas?m, Bulakba?? Balc? Tu?çe, Bo?a Can, Koç Zafer, Y?lmaz Çelik Zerrin, Özdo?u Hakan, Karaku? Sema, ?ahin Feride ?ff |
|
Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome.
Hematology (Amsterdam, Netherlands) 2016 Apr 21 (3): 170-4. Lucijanic Marko, Pejša Vlatko, Mitrovic Zdravko, Štoos-Veic Tajana, Livun Ana, Jakšic Ozren, Vasilj Tamara, Piršic Mario, Hariš Višnja, Prka Željko, Kušec Raj |
|
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 |
|
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 |
|
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Hepatology (Baltimore, Md.) 2015 Aug 62 (2): 429-39. McLaren Christine E, Emond Mary J, Subramaniam V Nathan, Phatak Pradyumna D, Barton James C, Adams Paul C, Goh Justin B, McDonald Cameron J, Powell Lawrie W, Gurrin Lyle C, Allen Katrina J, Nickerson Deborah A, Louie Tin, Ramm Grant A, Anderson Gregory J, McLaren Gordon |
|
Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome.
Hematology (Amsterdam, Netherlands) 2015 May . Lucijani? Marko, Pejša Vlatko, Mitrovi? Zdravko, Štoos-Vei? Tajana, Livun Ana, Jakši? Ozren, Vasilj Tamara, Pirši? Mario, Hariš Višnja, Prka Željko, Kušec Raj |
|
HJV and HFE Play Distinct Roles in Regulating Hepcidin.
Antioxidants & redox signaling 2015 May 22 (15): 1325-36. Wu Qian, Wang Hao, An Peng, Tao Yunlong, Deng Jiali, Zhang Zhuzhen, Shen Yuanyuan, Chen Caiyong, Min Junxia, Wang Fu |
|
Metabolic alterations, HFE gene mutations and atherogenic lipoprotein modifications in patients with primary iron overload.
Clinical science (London, England : 1979) 2015 May 128 (9): 609-18. Meroño Tomás, Brites Fernando, Dauteuille Carolane, Lhomme Marie, Menafra Martín, Arteaga Alejandra, Castro Marcelo, Saez María Soledad, Ballerga Esteban González, Sorroche Patricia, Rey Jorge, Lesnik Philippe, Sordá Juan Andrés, Chapman M John, Kontush Anatol, Daruich Jor |
|
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Hepatology (Baltimore, Md.) 2015 Apr . McLaren Christine E, Emond Mary J, Subramaniam V Nathan, Phatak Pradyumna D, Barton James C, Adams Paul C, Powell Lawrie W, Gurrin Lyle C, Ramm Grant A, Anderson Gregory J, McLaren Gordon |
|
Genetic variant coding for iron regulatory protein HFE contributes to hypertension, the TAMRISK study.
Medicine 2015 Jan 94 (4): e464. Määttä Kirsi M, Nikkari Seppo T, Kunnas Tarja |
|
Correlates of hepcidin and NTBI according to HFE status in patients referred to a liver centre.
Acta haematologica 2015 133 (2): 155-61. Ryan Eleanor, Ryan John D, Russell Jennifer, Coughlan Barbara, Tjalsma Harold, Swinkels Dorine W, Stewart Stephen, Crowe John |
|
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 |
|
Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44,809 participants of the HEIRS study.
Canadian journal of gastroenterology & hepatology 2014 Oct 28 (9): 502-4. Lim Andrew, Speechley Mark, Adams Paul |
|
Iron overload is rare in patients homozygous for the H63D mutation.
Canadian journal of gastroenterology & hepatology 2014 Apr 28 (4): 198-202. Kelley Melissa, Joshi Nikhil, Xie Yagang, Borgaonkar Ma |
|
Influence of iron regulating genes mutations on iron status in Egyptian patients with sickle cell disease.
Annals of clinical and laboratory science 2014 44 (3): 304-9. Abdel Rahman Hala A, Abou-Elew Heba H, El-Shorbagy Reem M, Fawzy Rania, Youssry Ilh |
|
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 |
|
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Annals of hepatology 0 15 (6): 907-910. Levstik Alexander, Stuart Alan, Adams Paul |
- Page last reviewed:Oct 1, 2020
- Page last updated:Nov 24, 2020
- Content source: