Search Results - "Martinez di Montemuros, F."

TT virus infection in adult beta-thalassemia major patients by Sampietro, M, Tavazzi, D, Martinez di Montemuros, F, Cerino, M, Zatelli, S, Lunghi, G, Orlandi, A, Fargion, S, Fiorelli, G, Cappellini, MD

“…Dipartimento di Medicina Interna, Universita di Milano, Milan, Italy. maurizio.sampietro@unimi.it BACKGROUND AND OBJECTIVES: Patients with thalassemia-major…”
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Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT) by Cappellini, M.D., Martinez di Montemuros, F., Tavazzi, D., Fargion, S., Pizzuti, A., Comino, A., Cainelli, T., Fiorelli, G.

“…In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian…”
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Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda by Martinez di Montemuros, F, Tavazzi, D, Patti, E, Cappellini, M D

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Molecular characterization of porphyrias in Italy: a diagnostic flow-chart by Martinez di Montemuros, F, Di Pierro, E, Patti, E, Tavazzi, D, Danielli, M G, Biolcati, G, Rocchi, E, Cappellini, M D

“…The porphyrias are disorders associated with inherited or acquired enzyme deficiencies in the heme biosynthetic pathway. The differential diagnosis is often…”
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Acute Intermittent Porphyria: Heterogeneity of Mutations in the Hydroxymethylbilane Synthase Gene in Italy by Martinez di Montemuros, F, Di Pierro, E, Biolcati, G, Rocchi, E, Bissolotti, E, Tavazzi, D, Fiorelli, G, Cappellini, M.D

“…ABSTRACT Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase…”
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Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations by di Montemuros, Franco Martinez, Di Pierro, Elena, Fargion, Silvia, Biolcati, Gianfranco, Griso, Daniela, Macrì, Annelisa, Fiorelli, Gemino, Cappellini, Maria Domenica

“…Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the…”
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High frequency of the H63D mutation of the hemochromatosis gene (HFE) in malignant gliomas by MARTINEZ DI MONTEMUROS, F, TAVAZZI, D, SALSANO, E, PIEPOLI, T, POLIO, B, FIORELLI, G, FINOCCHIARO, G

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A novel polymorphism (219G>A) in the transferrin receptor gene by Meregalli, Mirella, Corbetta, Noemi, Pellagatti, Andrea, di Montemuros, Franco Martinez, Tavazzi, Dario, Fargion, Silvia, Sampietro, Maurizio

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Different Origin of nt 1246 Glucose-6-Phosphate Dehydrogenase Mutation by Cappellini, M.D., di Montemuros, F. Martinez, Fiorelli, G.

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Alternative splicing of human G6PD messenger RNA in K562 cells but not in cultured erythroblasts by Cappellini, M D, Tavazzi, D, Martinez di Montemuros, F, Sampietro, M, Gaviraghi, A, Carandini, D, Fiorelli, G

“…The biochemical properties of glucose-6-phosphate dehydrogenase (G6PD) vary in different tissues, and different protein isoforms of the enzyme have been…”
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Gene symbol: UROD. Disease: Porphyria, cutanea tarda by Martinez di Montemuros, F, Tavazzi, D, Patti, E, Cappellini, M D

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Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants by Fiorelli, Gemino, Martinez di Montemuros, Franco, Cappellini, Maria Domenica

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in over 400 million people world wide. In a small…”
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Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy by Martinez di Montemuros, F, Dotti, C, Tavazzi, D, Fiorelli, G, Cappellini, MD

“…Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Universita di Milano, Italy. BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency, one of the…”
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The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels by Domenica, Maria,  cappellini, Martinez, Franco,  di Montemuros, Sampietro, Maurizio, Tavazzi, Dario, Fiorelli, Gemino

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Multiple G6PD Mutations Are Associated With a Clinical and Biochemical Phenotype Similar to That of G6PD Mediterranean by Cappellini, Maria Domenica, Montemuros, Franco Martinez di, Bellis, Gianluca De, Debernardi, Silvana, Dotti, Chiara, Fiorelli, Gemino

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency, one of the most common red cell abnormalities, is characterized by a wide clinical, biochemical, and…”
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Different origin of nt 1246 glucose-6-phosphate dehydrogenase mutation [letter; comment] by Cappellini, MD, Martinez di Montemuros, F, Fiorelli, G

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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 by Sampietro, Maurizio, Lupica, Loredana, Perrero, Luca, Comino, Alessia, Martinez di Montemuros, Franco, Cappellini, Maria Domenica, Fiorelli, Gemino

“…We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the bilirubin levels of subjects with inherited…”
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Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population by Badens, C, Martinez di Montemuros, F, Thuret, I, Michel, G, Mattei, J F, Cappellini, M D, Lena-Russo, D

“…The Comoro archipelago is characterised by a high prevalence of red cell genetic disorders such as G6PD deficiency and haemoglobinopathies, being a region…”
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Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant by CAPPELLINI, M. D, MARTINEZ DI MONTEMUROS, F, DOTTI, C, TAVAZZI, D, FIORELLI, G

“…During the last ten years, molecular biological techniques such as cloning and sequencing and, more recently, polymerase chain reaction (PCR) amplification…”
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G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype by CAPPELLINI, M. D, SAMPIETRO, M, TONIOLO, D, CARANDINA, G, DI MONTEMUROS, F. M, TAVAZZI, D, FIORELLI, G

“…The cloning and sequencing of the normal glucose-6-phosphate dehydrogenase (G6PD) gene has led to the study of the molecular defects that determine enzymatic…”
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