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Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Badar S, et al. Among authors: girelli d. Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304. Am J Hematol. 2016. PMID: 26799139 Free article.
CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.
Pelucchi S, Mariani R, Calza S, Fracanzani AL, Modignani GL, Bertola F, Busti F, Trombini P, Fraquelli M, Forni GL, Girelli D, Fargion S, Specchia C, Piperno A. Pelucchi S, et al. Among authors: girelli d. Haematologica. 2012 Dec;97(12):1818-25. doi: 10.3324/haematol.2012.062661. Epub 2012 Jul 6. Haematologica. 2012. PMID: 22773607 Free PMC article.
Increased serum hepcidin levels in subjects with the metabolic syndrome: a population study.
Martinelli N, Traglia M, Campostrini N, Biino G, Corbella M, Sala C, Busti F, Masciullo C, Manna D, Previtali S, Castagna A, Pistis G, Olivieri O, Toniolo D, Camaschella C, Girelli D. Martinelli N, et al. Among authors: girelli d. PLoS One. 2012;7(10):e48250. doi: 10.1371/journal.pone.0048250. Epub 2012 Oct 29. PLoS One. 2012. PMID: 23144745 Free PMC article.
Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis.
Bozzini C, Campostrini N, Trombini P, Nemeth E, Castagna A, Tenuti I, Corrocher R, Camaschella C, Ganz T, Olivieri O, Piperno A, Girelli D. Bozzini C, et al. Among authors: girelli d. Blood Cells Mol Dis. 2008 May-Jun;40(3):347-52. doi: 10.1016/j.bcmd.2007.10.001. Epub 2007 Dec 27. Blood Cells Mol Dis. 2008. PMID: 18164223
Hepcidin assay in serum by SELDI-TOF-MS and other approaches.
Castagna A, Campostrini N, Zaninotto F, Girelli D. Castagna A, et al. Among authors: girelli d. J Proteomics. 2010 Jan 3;73(3):527-36. doi: 10.1016/j.jprot.2009.08.003. Epub 2009 Aug 13. J Proteomics. 2010. PMID: 19683083 Review.
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
Traglia M, Girelli D, Biino G, Campostrini N, Corbella M, Sala C, Masciullo C, Viganò F, Buetti I, Pistis G, Cocca M, Camaschella C, Toniolo D. Traglia M, et al. Among authors: girelli d. J Med Genet. 2011 Sep;48(9):629-34. doi: 10.1136/jmedgenet-2011-100061. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785125
356 results