Journal articles on the topic 'Haemochromatosis, iron, genetics'
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Cox, Timothy. "Haemochromatosis: Strike while the iron is hot." Nature Genetics 13, no. 4 (August 1996): 386–88. http://dx.doi.org/10.1038/ng0896-386.
Full textDemetz, Egon, Piotr Tymoszuk, Richard Hilbe, Chiara Volani, David Haschka, Christiane Heim, Kristina Auer, et al. "The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development." European Heart Journal 41, no. 40 (March 30, 2020): 3949–59. http://dx.doi.org/10.1093/eurheartj/ehaa140.
Full textLv, Tingxia, Wei Zhang, Anjian Xu, Yanmeng Li, Donghu Zhou, Bei Zhang, Xiaojin Li, et al. "Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants." Journal of Medical Genetics 55, no. 10 (August 30, 2018): 650–60. http://dx.doi.org/10.1136/jmedgenet-2018-105348.
Full textDallos, Tomáš, Enijad Sahinbegovic, Elmar Aigner, Roland Axmann, Maximilian Schöniger-Hekele, Thomas Karonitsch, Tanja Stamm, et al. "Validation of a radiographic scoring system for haemochromatosis arthropathy." Annals of the Rheumatic Diseases 69, no. 12 (August 2, 2010): 2145–51. http://dx.doi.org/10.1136/ard.2009.122119.
Full textPinson, S., J. Yaouanq, A. M. Jouanolle, B. Turlin, and H. Plauchu. "Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis." Journal of Medical Genetics 35, no. 11 (November 1, 1998): 954–56. http://dx.doi.org/10.1136/jmg.35.11.954.
Full textMura, C. "Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs." Journal of Medical Genetics 38, no. 9 (September 1, 2001): 632–36. http://dx.doi.org/10.1136/jmg.38.9.632.
Full textHeiland, Gisela Ruiz, Elmar Aigner, Tomáš Dallos, Enijad Sahinbegovic, Veit Krenn, Christoph Thaler, Günter Weiss, et al. "Synovial immunopathology in haemochromatosis arthropathy." Annals of the Rheumatic Diseases 69, no. 6 (November 23, 2009): 1214–19. http://dx.doi.org/10.1136/ard.2009.120204.
Full textChart, Henrik, and Elwyn Griffiths. "The availability of iron and the growth ofVibrio vulnificusin sera from patients with haemochromatosis." FEMS Microbiology Letters 26, no. 2 (February 1985): 227–31. http://dx.doi.org/10.1111/j.1574-6968.1985.tb01596.x.
Full textBeiranvand, Elham, Saeid Abediankenari, Mosayeb Rostamian, Behnoush Beiranvand, and Saeed Naazeri. "The Study of HFE Genotypes and Its Expression Effect on Iron Status of Iranian Haemochromatosis, Iron Deficiency Anemia Patients, Iron-Taker and Non Iron-Taker Controls." Recent Advances in DNA & Gene Sequences (Formerly Recent Patents on DNA & Gene Sequences) 9, no. 1 (January 26, 2016): 58–64. http://dx.doi.org/10.2174/2352092209666150211233434.
Full textMcNamee, Antony P., Surendran Sabapathy, Indu Singh, Jarod Horobin, Janelle Guerrero, and Michael J. Simmonds. "Acute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with Haemochromatosis." PLOS ONE 11, no. 1 (January 7, 2016): e0146448. http://dx.doi.org/10.1371/journal.pone.0146448.
Full textLivesey, K. J. "The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading." Journal of Medical Genetics 41, no. 1 (January 1, 2004): 6–10. http://dx.doi.org/10.1136/jmg.2003.008805.
Full textMcCune, Anne, Layla Al-Jader, Alison May, Sara Hayes, Helen Jackson, and Mark Worwood. "Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload." Human Genetics 111, no. 6 (December 1, 2002): 538–43. http://dx.doi.org/10.1007/s00439-002-0824-1.
Full textOGOUMA-AWORET, Ludmilla, Jean-Pierre RABES, and Philippe de MAZANCOURT. "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." BioMed Research International 2020 (December 28, 2020): 1–6. http://dx.doi.org/10.1155/2020/9396318.
Full textKelly, A. L. "Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism." Journal of Medical Genetics 38, no. 9 (September 1, 2001): 599–610. http://dx.doi.org/10.1136/jmg.38.9.599.
Full textHannaway, Liam, and Sophie Wellman. "Genetic haemochromatosis." InnovAiT: Education and inspiration for general practice 13, no. 6 (April 7, 2020): 353–60. http://dx.doi.org/10.1177/1755738020911403.
Full textGottschalk, R., C. Seidl, S. Schilling, A. Braner, E. Seifried, D. Hoelzer, and J. P. Kaltwasser. "Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin 6I and Ban I polymorphism in German patients with hereditary haemochromatosis." European Journal of Immunogenetics 27, no. 3 (June 2000): 129–34. http://dx.doi.org/10.1046/j.1365-2370.2000.00215.x.
Full textGeorge, D. K., G. A. Ramm, L. W. Powell, L. M. Fletcher, N. I. Walker, L. L. Cowley, and D. H. G. Crawford. "Evidence for altered hepatic matrix degradation in genetic haemochromatosis." Gut 42, no. 5 (May 1, 1998): 715–20. http://dx.doi.org/10.1136/gut.42.5.715.
Full textKrasin, Elisha, Aviram Gold, Samuel Morgan, and Yaniv Warschawski. "Screening for hereditary haemochromatosis in patients undergoing knee arthroplasty." Bone & Joint Open 2, no. 12 (December 1, 2021): 1062–66. http://dx.doi.org/10.1302/2633-1462.212.bjo-2021-0162.r1.
Full textKaltwasser, J. P., E. Werner, K. Schalk, C. Hansen, R. Gottschalk, and C. Seidl. "Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis." Gut 43, no. 5 (November 1, 1998): 699–704. http://dx.doi.org/10.1136/gut.43.5.699.
Full textEijkelkamp, Emmeke J., Thomas R. Yapp, and Lawrie W. Powell. "HFE-Associated Hereditary Haemochromatosis." Canadian Journal of Gastroenterology 14, no. 2 (2000): 121–25. http://dx.doi.org/10.1155/2000/360372.
Full textAguilar-Martinez, P., J. F. Schved, C. Badens, I. Thuret, G. Michel, M. G. Neonato, J. Y. Peltier, et al. "Iron overload in thalassaemias and genetic haemochromatosis." European Journal of Haematology 64, no. 4 (April 2000): 279–80. http://dx.doi.org/10.1034/j.1600-0609.2000.9l135.x.
Full textMilman, Nils Thorm. "A Review of Nutrients and Compounds, Which Promote or Inhibit Intestinal Iron Absorption: Making a Platform for Dietary Measures That Can Reduce Iron Uptake in Patients with Genetic Haemochromatosis." Journal of Nutrition and Metabolism 2020 (September 14, 2020): 1–15. http://dx.doi.org/10.1155/2020/7373498.
Full textPique, Karina, William Taber, Anthony Thompson, and Charles Gerry Maitland. "Isolated optic neuropathy due to folate deficiency with associated iron overload." BMJ Case Reports 14, no. 7 (July 2021): e242399. http://dx.doi.org/10.1136/bcr-2021-242399.
Full textUtke Rank, Cecilie, Jesper Petersen, Henrik Birgens, and Ove Juul Nielsen. "Hereditary Hyperferritinemia-cataract Syndrome." European Oncology & Haematology 11, no. 2 (2015): 147. http://dx.doi.org/10.17925/eoh.2015.11.02.147.
Full textHübscher, Stefan G. "Iron overload, inflammation and fibrosis in genetic haemochromatosis." Journal of Hepatology 38, no. 4 (April 2003): 521–25. http://dx.doi.org/10.1016/s0168-8278(03)00078-3.
Full textMortimore, Gerri. "Genetic haemochromatosis: diagnosing and treating hereditary iron overload." Gastrointestinal Nursing 15, Sup10 (December 2017): S16—S21. http://dx.doi.org/10.12968/gasn.2017.15.sup10.s16.
Full textGangaidzo, I. T., V. M. Moyo, T. Saungweme, H. Khumalo, R. M. Charakupa, Z. A. R. Gomo, M. Loyevsky, et al. "Iron overload in urban Africans in the 1990s." Gut 45, no. 2 (August 1, 1999): 278–83. http://dx.doi.org/10.1136/gut.45.2.278.
Full textSudmantaitė, Vaida, Jelena Čelutkienė, Sigita Glaveckaite, and Rimgaudas Katkus. "Difficult diagnosis of cardiac haemochromatosis: a case report." European Heart Journal - Case Reports 4, no. 1 (February 1, 2020): 1–6. http://dx.doi.org/10.1093/ehjcr/ytaa012.
Full textCamaschella, Clara, Antonella Roetto, and Marco De Gobbi. "Genetic haemochromatosis: genes and mutations associated with iron loading." Best Practice & Research Clinical Haematology 15, no. 2 (June 2002): 261–76. http://dx.doi.org/10.1053/beha.2002.0207.
Full textSalvador, Maria, Fernando A. Gonzalez, Paloma Ropero, Briceño Olga, Anguita Eduardo, and Villegas Ana. "16189 Mitocondrial Variant and Iron Overload." Blood 106, no. 11 (November 16, 2005): 3705. http://dx.doi.org/10.1182/blood.v106.11.3705.3705.
Full textUpadhyay, Binayak, Steven D. Green, Nabin Khanal, and Aśok C. Antony. "Clinical conundrum: managing iron overload after renal transplantation." BMJ Case Reports 14, no. 2 (February 2021): e239568. http://dx.doi.org/10.1136/bcr-2020-239568.
Full textJohnson, Martin, and Gerri Mortimore. "Genetic haemochromatosis: diagnosis and treatment of an iron overload disorder." Nursing Standard 37, no. 11 (September 20, 2022): 77–82. http://dx.doi.org/10.7748/ns.2022.e11896.
Full textReichert, Cadiele Oliana, Joel da Cunha, Débora Levy, Luciana Morganti Ferreira Maselli, Sérgio Paulo Bydlowski, and Celso Spada. "Hepcidin: Homeostasis and Diseases Related to Iron Metabolism." Acta Haematologica 137, no. 4 (2017): 220–36. http://dx.doi.org/10.1159/000471838.
Full textPerruccio, Katia, Francesco Arcioni, Carla Cerri, Roberta La Starza, Donatella Romanelli, Ilaria Capolsini, and Maurizio Caniglia. "The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families." Case Reports in Pediatrics 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/806034.
Full textBurke, Wylie, Giuseppina Imperatore, and Michelle Reyes. "Iron deficiency and iron overload: effects of diet and genes." Proceedings of the Nutrition Society 60, no. 1 (February 2001): 73–80. http://dx.doi.org/10.1079/pns200069.
Full textGautier, Alain, Fabrice Lainé, Catherine Massart, Laure Sandret, Xavier Piguel, Pierre Brissot, Beverley Balkau, Yves Deugnier, and Fabrice Bonnet. "Liver iron overload is associated with elevated SHBG concentration and moderate hypogonadotrophic hypogonadism in dysmetabolic men without genetic haemochromatosis." European Journal of Endocrinology 165, no. 2 (August 2011): 339–43. http://dx.doi.org/10.1530/eje-11-0215.
Full textGoyal, Abhishek, Bishav Mohan, Kavita Saggar, and Gurpreet Singh Wander. "Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario." BMJ Case Reports 13, no. 9 (September 2020): e235650. http://dx.doi.org/10.1136/bcr-2020-235650.
Full textBeutler, Ernest. "Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations." Lancet 349, no. 9048 (February 1997): 296–97. http://dx.doi.org/10.1016/s0140-6736(97)22005-2.
Full textConti, Clara Benedetta, Alessandra Baccarin, Dario Conte, and Mirella Fraquelli. "Decreasing iron-related indexes without anaemia in a patient with genetic haemochromatosis." Internal and Emergency Medicine 10, no. 7 (July 26, 2015): 839–42. http://dx.doi.org/10.1007/s11739-015-1284-7.
Full textBASCLAIN, KERRIE A., KEITH B. SHILKIN, GEOFFREY WITHERS, WILLIAM D. REED, and GARY P. JEFFREY. "Cellular expression and regulation of iron transport and storage proteins in genetic haemochromatosis." Journal of Gastroenterology and Hepatology 13, no. 6 (June 1998): 624–34. http://dx.doi.org/10.1111/j.1440-1746.1998.tb00701.x.
Full textArnold, J. D., A. D. Mumford, J. O. Lindsay, U. Hegde, M. Hagan, and J. R. Hawkins. "Hyperferritinaemia in the absence of iron overload." Gut 41, no. 3 (September 1, 1997): 408–10. http://dx.doi.org/10.1136/gut.41.3.408.
Full textRainero, I., E. Rubino, C. Rivoiro, W. Valfrè, E. Binello, E. Zampella, P. De Martino, et al. "Haemochromatosis Gene (HFE) Polymorphisms and Migraine: An Association Study." Cephalalgia 27, no. 1 (January 2007): 9–13. http://dx.doi.org/10.1111/j.1468-2982.2006.01231.x.
Full textPellegrino, R. M., F. Riondato, L. Ferbo, M. Boero, A. Palmieri, L. Osella, P. Pollicino, B. Miniscalco, G. Saglio, and A. Roetto. "Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis." BioMed Research International 2017 (2017): 1–12. http://dx.doi.org/10.1155/2017/2408941.
Full textGeorge, P. M., C. Conaghan, H. B. Angus, T. A. Walmsley, and B. A. Chapman. "Comparison of histological and biochemical hepatic iron indexes in the diagnosis of genetic haemochromatosis." Journal of Clinical Pathology 49, no. 2 (February 1, 1996): 159–63. http://dx.doi.org/10.1136/jcp.49.2.159.
Full textPARTRIDGE, Jason, Daniel F. WALLACE, Kishor B. RAJA, James S. DOOLEY, and Ann P. WALKER. "Monocyte–macrophage ferric reductase activity is inhibited by iron and stimulated by cellular differentiation." Biochemical Journal 336, no. 3 (December 15, 1998): 541–43. http://dx.doi.org/10.1042/bj3360541.
Full textO'Hara, R., N. Cavanagh, M. Cassidy, and M. Cullina. "The role of transferrin saturation as a screening test for hereditary haemochromatosis in an Irish population seeking medical care." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 40, no. 2 (March 1, 2003): 169–74. http://dx.doi.org/10.1258/000456303763046111.
Full textO'Toole, Rebecca, Collette Bromhead, and Kenneth R. Romeril. "Using Iron Studies to Target Testing for Hereditary Haemochromatosis in New Zealand." Blood 126, no. 23 (December 3, 2015): 2150. http://dx.doi.org/10.1182/blood.v126.23.2150.2150.
Full textDorniak, Karolina, Ludmiła Daniłowicz-Szymanowicz, Katarzyna Sikorska, Katarzyna Rozwadowska, Jadwiga Fijałkowska, Anna Glińska, Magdalena Tuzimek, et al. "Left Ventricular Function and Iron Loading Status in a Tertiary Center Hemochromatosis Cohort—A Cardiac Magnetic Resonance Study." Diagnostics 12, no. 11 (October 28, 2022): 2620. http://dx.doi.org/10.3390/diagnostics12112620.
Full textKaltwasser, J. P., E. Werner, R. Schalk, C. Hansen, R. Gottschalk, and C. Seidl. "Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis." European Journal of Gastroenterology & Hepatology 10, no. 12 (December 1998): 1064. http://dx.doi.org/10.1097/00042737-199812000-00022.
Full textDonnelly, Sc, Ng Joshi, D. Thorburn, A. Cooke, G. Reid, M. Neilson, H. Capell, and Aj Stanley. "Prevalence of Genetic Haemochromatosis and Iron Overload in Patients Attending Rheumatology and Joint Replacement Clinics." Scottish Medical Journal 55, no. 1 (February 2010): 14–16. http://dx.doi.org/10.1258/rsmsmj.55.1.14.
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