CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients von PELUCCHI, Sara, MARIANI, Raffaella, GIRELLI, Domenico, FARGION, Silvia, SPECCHIA, Claudia, PIPERNO, Alberto, CALZA, Stefano, LUDOVICA FRACANZANI, Anna, LITTA MODIGNANI, Giulia, BERTOLA, Francesca, BUSTI, Fabiana, TROMBINI, Paola, FRAQUELLI, Mirella, LUCA FORNI, Gian

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Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation von Mariani, R, Arosio, C, Pelucchi, S, Grisoli, M, Piga, A, Trombini, P, Piperno, A

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Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis von Piperno, Alberto, Arosio, Cristina, Fossati, Laura, Viganò, Mauro, Trombini, Paola, Vergani, Anna, Mancia, Giuseppe

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Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload von Pelucchi, S, Mariani, R, Salvioni, A, Bonfadini, S, Riva, A, Bertola, F, Trombini, P, Piperno, A

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Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes von Mariani, R., Pelucchi, S., Arosio, C., Coletti, S., Pozzi, M., Paolini, V., Trombini, P., Piperno, A.

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1133 A TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON CHALLENGE IN HFE AND TFR2 HEMOCHROMATOSIS PATIENTS von Trombini, P, Busti, F, Campostrini, N, Sandri, M, Pelucchi, S, Nemeth, E, Ganz, T, Camaschella, C, Girelli, D, Piperno, A

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436 ANALYSIS OF POLYMORPHISMS OF GENES REGULATING HEPCIDIN TRANSCRIPTION IN HFE- HEMOCHROMATOSIS von Pozzi, M, Mariani, R, Pelucchi, S, Paolini, V, Coletti, S, Trombini, P, Bertola, F, Piperno, A

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1015 DYSMETABOLIC HEPATIC IRON OVERLOAD SYNDROME: ANALYSIS OF HEPCIDIN RESPONSE TO ACUTE ORAL IRON AND CHRONIC IRON OVERLOAD von Paolini, V, Trombini, P, Pelucchi, S, Mariani, R, Salvioni, A, Pozzi, M, Nemeth, E, Ganz, T, Piperno, A

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A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis von GIRELLI, Domenico, TROMBINI, Paola, CAMASCHELLA, Clara, BUSTI, Fabiana, CAMPOSTRINI, Natascia, SANDRI, Marco, PELUCCHI, Sara, WESTERMAN, Mark, GANZ, Tomas, NEMETH, Elizabeta, PIPERNO, Alberto

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1 TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON TEST CLARIFIES THE ROLE OF HFE AND TFR2 IN IRON SENSING von Trombini, P, Busti, F, Campostrini, N, Sandri, M, Pelucchi, S, Nemeth, E, Ganz, T, Camaschella, C, Girelli, D, Piperno, A

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F.N.38 HEPCIDIN EXPRESSION AT HEPATIC, SERUM AND URINARY LEVEL IN SUBJECTS WITH DIFFERENT IRON PHENOTYPES von Pozzi, M, Pelucchi, S, Trombini, P, Mariani, R, Coletti, S, Vanessi, S, Nemeth, E, Tomosugi, N, Barisani, D, Piperno, A

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964 THE PRESENCE OF TWO OR MORE METABOLIC ALTERATIONS AND HEPATIC STEATOSIS CHARACTERIZES THE DYSMETABOLIC IRON OVERLOAD SYNDROME von Riva, A, Trombini, P, Mariani, R, Salvioni, A, Coletti, S, Bonfadini, S, Paolini, V, Pozzi, M, Bovo, G, Piperno, A

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Phenotype variability in HFE-hemochromatosis: Analysis of polymorphisms of genes regulating hepcidin transcription von Pozzi, M, Mariani, R, Pelucchi, S, Paolini, V, Coletti, S, Trombini, P, Bertola, F, Piperno, A

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PA.84 CLINICAL AND HISTOLOGICAL CRITERIA FOR DIAGNOSIS OF DYSMETABOLIC IRON OVERLOAD SYNDROME von Riva, A, Trombini, P, Mariani, R, Salvioni, A, Coletti, S, Bonfadini, S, Pozzi, M, Paolini, V, Bovo, G, Piperno, A

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PA.89 HYPOADIPONECTINEMIA AS A MARKER OF INSULIN RESISTANCE AND INCREASED CARDIOVASCULAR AND HEPATIC FIBROSIS RISK IN PATIENTS WITH DYSMETABOLIC HEPATIC IRON OVERLOAD SYNDROME von Salvioni, A, Corbetta, S, Trombini, P, Coletti, S, Bonfadini, S, Paolini, V, Pozzi, M, Beck-Peccoz, P, Spada, A, Radaelli, A, Piperno, A

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HFE and SLC40A1 polymorphisms may favour iron overload in humans von Trombini, P, Pelucchi, S, Maldini, F.F, Salvioni, A, Riva, A, Mariani, R, Coletti, S, Bertola, F, Piperno, A

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1129 IRON OVERLOAD INCREASES SYMPATHETIC NERVOUS ACTIVITY: STUDY IN HEMOCHROMATOSIS PATIENTS AT DIAGNOSIS AND IRON DEPLETION von Mariani, R, Piperno, A, Trombini, P, Coletti, S, Pozzi, M, Seravalle, G, Quarti-Trevano, F, Grassi, G, Mancia, G

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Increased serum ferritin is common in men with essential hypertension von Piperno, Alberto, Trombini, Paola, Gelosa, Marisa, Mauri, Viviana, Pecci, Valeria, Vergani, Anna, Salvioni, Alessandra, Mariani, Raffaella, Mancia, Giuseppe

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Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors von Mariani, R, Salvioni, A, Corengia, C, Erba, N, Lanzafame, C, De Micheli, V, Baldini, V, Arosio, C, Fossati, L, Trombini, P, Oberkanins, C, Piperno, A

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Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene von Arosio, C, Fossati, L, Viganò, M, Trombini, P, Cazzaniga, G, Piperno, A

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