Laboratory diagnosis of thalassemia von Brancaleoni, V., Di Pierro, E., Motta, I., Cappellini, M. D.

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X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria von Brancaleoni, V., Balwani, M., Granata, F., Graziadei, G., Missineo, P., Fiorentino, V., Fustinoni, S., Cappellini, M.D., Naik, H., Desnick, R.J., Di Pierro, E.

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A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait von Maakaron, J.E., Abdel Malak, O., Itani, S., Cappellini, M.D., Di Pierro, E., Brancaleoni, V., Granata, F., Taher, A.T.

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Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent von Di Pierro, Elena, Brancaleoni, V, Stanzial, F, Benedicenti, F, Castellan, C, Cappellini, M D

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Novel human pathological mutations. Gene symbol: CPOX. Disease: Coproporphyria von Ausenda, Sabrina, Di Pierro, E, Brancaleoni, V, Tavazzi, D, Cappellini, M D

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Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent von Besana, Valeria, Di Pierro, E, Brancaleoni, V, Sabrina, A, Fiocchi, M, Cappellini, M D

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Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate von Ausenda, Sabrina, Moriondo, V, Marchini, S, Besana, V, Di Pierro, E, Brancaleoni, V, Ventura, P, Rocchi, E, Cappellini, M D

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Gene symbol: PPOX. Disease: Porphyria, variegate von Ausenda, Sabrina, Di Pierro, E, Besana, V, Brancaleoni, V, Cappellini, M D

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Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria von Di Pierro, E, Brancaleoni, V, Moriondo, V, Besana, V, Cappellini, MD

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Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate von Ausenda, S, Di Pierro, E, Brancaleoni, V, Besana, V, Cappellini, M D

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Novel human pathological mutations. Gene symbol: FECH. Disease: porphyria, erythropoietic von Brancaleoni, V, Di Pierro, E, Besana, V, Ausenda, S, Drury, S, Cappellini, M D

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Gene symbol: HMBS. Disease: porphyria, acute intermittent von Di Pierro, E, Besana, V, Moriondo, V, Brancaleoni, V, Cappellini, M D

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Gene symbol: CPOX von Ausenda, Sabrina, Di Pierro, E, Besana, V, Brancaleoni, V, Cappellini, M D

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Gene symbol: HMBS von Besana, V, Di Pierro, E, Brancaleoni, V, Ausenda, S, Cappellini, M D

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Gene symbol: HMBS. Disease: porphyria, acute intermittent von Di Pierro, E, Besana, V, Ausenda, S, Brancaleoni, V, Cappellini, M D

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Gene symbol: HMBS. Disease: porphyria, acute intermittent von Di Pierro, E, Besana, V, Brancaleoni, V, Moriondo, V, Cappellini, M D

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Gene symbol: HMBS. Disease: Porphyria, acute intermittent von Di Pierro, E, Brancaleoni, V, Cappellini, M D

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Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501 von Di Pierro, E, Brancaleoni, V, Moriondo, V, Besana, V, Cappellini, M D

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Epidemiology of porphyrias in Italy: rare complex diseases with liver involvement- data from the registry of Gruppo Italiano Porfiria (GrIP) von Ventura, P., Cappellini, M., Macrì, A., Guida, C., Nicolli, A., Rossi, M., Di Pierro, E., Brancaleoni, V., Granata, F., Fiorentino, V., Fustinoni, S., Sala, R., Calzavara-Pinton, P.G., Trevisan, A., Marchini, S., Cuoghi, C., Marcacci, M., Pietrangelo, A., Sorge, F., Aurizi, C., Savino, M.G.

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A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias von Ventura, Paolo, Cappellini, Maria Domenica, Biolcati, Gianfranco, Guida, Claudio Carmine, Rocchi, Emilio

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