TT virus infection in adult beta-thalassemia major patients
Sampietro, M, Tavazzi, D, Martinez di Montemuros, F, Cerino, M, Zatelli, S, Lunghi, G, Orlandi, A, Fargion, S, Fiorelli, G, Cappellini, MD
Published in Haematologica (Roma) (01.01.2001)
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Published in Haematologica (Roma) (01.01.2001)
Journal Article
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)
Cappellini, M.D., Martinez di Montemuros, F., Tavazzi, D., Fargion, S., Pizzuti, A., Comino, A., Cainelli, T., Fiorelli, G.
Published in Human mutation (01.04.2001)
Published in Human mutation (01.04.2001)
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Journal Article
Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda
Martinez di Montemuros, F, Tavazzi, D, Patti, E, Cappellini, M D
Published in Human genetics (01.01.2004)
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Published in Human genetics (01.01.2004)
Journal Article
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart
Martinez di Montemuros, F, Di Pierro, E, Patti, E, Tavazzi, D, Danielli, M G, Biolcati, G, Rocchi, E, Cappellini, M D
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.12.2002)
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Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.12.2002)
Journal Article
Acute Intermittent Porphyria: Heterogeneity of Mutations in the Hydroxymethylbilane Synthase Gene in Italy
Martinez di Montemuros, F, Di Pierro, E, Biolcati, G, Rocchi, E, Bissolotti, E, Tavazzi, D, Fiorelli, G, Cappellini, M.D
Published in Blood cells, molecules, & diseases (01.11.2001)
Published in Blood cells, molecules, & diseases (01.11.2001)
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Journal Article
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations
di Montemuros, Franco Martinez, Di Pierro, Elena, Fargion, Silvia, Biolcati, Gianfranco, Griso, Daniela, Macrì, Annelisa, Fiorelli, Gemino, Cappellini, Maria Domenica
Published in Human mutation (01.05.2000)
Published in Human mutation (01.05.2000)
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Journal Article
High frequency of the H63D mutation of the hemochromatosis gene (HFE) in malignant gliomas
Martinez di Montemuros, F, Tavazzi, D, Salsano, E, Piepoli, T, Pollo, B, Fiorelli, G, Finocchiaro, G
Published in Neurology (09.10.2001)
Published in Neurology (09.10.2001)
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Journal Article
A novel polymorphism (219G>A) in the transferrin receptor gene
Meregalli, Mirella, Corbetta, Noemi, Pellagatti, Andrea, di Montemuros, Franco Martinez, Tavazzi, Dario, Fargion, Silvia, Sampietro, Maurizio
Published in Human mutation (01.04.2000)
Published in Human mutation (01.04.2000)
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Journal Article
Alternative splicing of human G6PD messenger RNA in K562 cells but not in cultured erythroblasts
Cappellini, M D, Tavazzi, D, Martinez di Montemuros, F, Sampietro, M, Gaviraghi, A, Carandini, D, Fiorelli, G
Published in European journal of clinical investigation (01.03.1993)
Published in European journal of clinical investigation (01.03.1993)
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Journal Article
Gene symbol: UROD. Disease: Porphyria, cutanea tarda
Martinez di Montemuros, F, Tavazzi, D, Patti, E, Cappellini, M D
Published in Human genetics (01.09.2003)
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Published in Human genetics (01.09.2003)
Journal Article
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy
Martinez di Montemuros, F, Dotti, C, Tavazzi, D, Fiorelli, G, Cappellini, MD
Published in Haematologica (Roma) (01.07.1997)
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Published in Haematologica (Roma) (01.07.1997)
Journal Article
Multiple G6PD Mutations Are Associated With a Clinical and Biochemical Phenotype Similar to That of G6PD Mediterranean
Cappellini, Maria Domenica, Montemuros, Franco Martinez di, Bellis, Gianluca De, Debernardi, Silvana, Dotti, Chiara, Fiorelli, Gemino
Published in Blood (01.05.1996)
Published in Blood (01.05.1996)
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Journal Article
The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β‐thalassaemia and in glucose‐6‐phosphate dehydrogenase deficiency
Sampietro, Maurizio, Lupica, Loredana, Perrero, Luca, Comino, Alessia, Martinez di Montemuros, Franco, Cappellini, Maria Domenica, Fiorelli, Gemino
Published in British journal of haematology (01.11.1997)
Published in British journal of haematology (01.11.1997)
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Journal Article
Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population
Badens, C, Martinez di Montemuros, F, Thuret, I, Michel, G, Mattei, J F, Cappellini, M D, Lena-Russo, D
Published in The hematology journal : the official journal of the European Haematology Association (2000)
Published in The hematology journal : the official journal of the European Haematology Association (2000)
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Journal Article
Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant
Cappellini, M D, Martinez di Montemuros, F, Dotti, C, Tavazzi, D, Fiorelli, G
Published in Human genetics (01.04.1995)
Published in Human genetics (01.04.1995)
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