A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
Paganini, I., Sestini, R., Capone, G.L., Putignano, A.L., Contini, E., Giotti, I., Gensini, F., Marozza, A., Barilaro, A., Porfirio, B., Papi, L.
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
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Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia
Ambrosini, S, Sarchielli, E, Comeglio, P, Porfirio, B, Gallina, P, Morelli, A, Vannelli, G.B
Published in Neuroscience (19.03.2015)
Published in Neuroscience (19.03.2015)
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Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations
Tavella, K., Villanucci, A., Vannini, L., Rossi, V., Fantechi, B., Capone, G., Putignano, A.L., Gensini, F., Porfirio, B., Amunni, G., Mazzei, T., Mini, E., Papi, L.
Published in Annals of oncology (01.10.2017)
Published in Annals of oncology (01.10.2017)
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Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations?
Franchi, A., Massi, D., Gallo, O., Santucci, M., Porfirio, B.
Published in Clinical and experimental dermatology (01.11.2006)
Published in Clinical and experimental dermatology (01.11.2006)
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Progress in restorative neurosurgery: human fetal striatal transplantation in Huntington's disease. Review
Gallina, P, Paganini, M, Lombardini, L, Giordano, G, Mascalchi, M, Romoli, A M, Ghelli, E, Porfirio, B, Vannelli, G B, Di Lorenzo, N
Published in Journal of neurosurgical sciences (01.12.2011)
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Published in Journal of neurosurgical sciences (01.12.2011)
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Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients
Beltrán-Valero de Bernabé, D., Granadino, B., Chiarelli, I., Porfirio, B., Mayatepek, E., Aquaron, R., Moore, M.M., Festen, J.J.M., Sanmartí, R., Peñalva, M.A., Rodríguez de Córdoba, S.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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MICA gene polymorphisms in an Italian paediatric series of juvenile Behçet disease
Picco, P, Porfirio, B, Gattorno, M, Buoncompagni, A, Falcini, F, Cusano, R, Bordo, D, Pistoia, V, Ravazzolo, R, Seri, M
Published in International journal of molecular medicine (01.11.2002)
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Published in International journal of molecular medicine (01.11.2002)
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Bcl-2 overexpression and smoking history in head and neck cancer
Gallo, O, Bianchi, S, Porfirio, B
Published in JNCI : Journal of the National Cancer Institute (05.07.1995)
Published in JNCI : Journal of the National Cancer Institute (05.07.1995)
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Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene
PORFIRIO, BERARDINO, CHIARELLI, ILARIA, GRAZIANO, CLAUDIO, MANNONI, ALESSANDRO, MORRONE, AMELIA, ZAMMARCHI, ENRICO, DE BERNABÉ, DANIEL BELTRÁN-VALERO, DE CÓRDOBA, SANTIAGO RODRÍGUEZ
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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Fetal striatal grafting slows motor and cognitive decline of Huntington's disease
Paganini, Marco, Biggeri, Annibale, Romoli, Anna Maria, Mechi, Claudia, Ghelli, Elena, Berti, Valentina, Pradella, Silvia, Bucciantini, Sandra, Catelan, Dolores, Saccardi, Riccardo, Lombardini, Letizia, Mascalchi, Mario, Massacesi, Luca, Porfirio, Berardino, Di Lorenzo, Nicola, Vannelli, Gabriella Barbara, Gallina, Pasquale
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2014)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2014)
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The distribution of KIR-HLA functional blocks is different from North to South of Italy
Fasano, M. E., Rendine, S., Pasi, A., Bontadini, A., Cosentini, E., Carcassi, C., Capittini, C., Cornacchini, G., Espadas de Arias, A., Garbarino, L., Carella, G., Mariotti, M. L., Mele, L., Miotti, V., Moscetti, A., Nesci, S., Ozzella, G., Piancatelli, D., Porfirio, B., Riva, M. R., Romeo, G., Tagliaferri, C., Lombardo, C., Testi, M., Amoroso, A., Martinetti, M.
Published in Tissue antigens (01.03.2014)
Published in Tissue antigens (01.03.2014)
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Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation
Toraldo, R, Canino, G, Tolone, C, D'Avanzo, M, Porfirio, B, Hoehn, H, Schroeder-Kurth, T, Pistoia, V
Published in Pediatric hematology and oncology (01.01.1998)
Published in Pediatric hematology and oncology (01.01.1998)
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Ring 20 chromosome phenotype
Porfirio, B, Valorani, M G, Giannotti, A, Sabetta, G, Dallapiccola, B
Published in Journal of medical genetics (01.06.1987)
Published in Journal of medical genetics (01.06.1987)
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Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients
VEZZOLI, Giuseppe, TANINI, Annalisa, FALCHETTI, Alberto, CUSI, Daniele, BIANCHI, Giuseppe, BRANDI, Maria Luisa, FERRUCCI, Luigi, SOLDATI, Laura, BIANCHIN, Cristiana, FRANCESCHELLI, Francesco, MALENTACCHI, Cecilia, PORFIRIO, Berardino, ADAMO, Donatella, TERRANEGRA, Annalisa
Published in Journal of the American Society of Nephrology (01.10.2002)
Published in Journal of the American Society of Nephrology (01.10.2002)
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Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes
Dallapiccola, B, Porfirio, B, Mokini, V, Alimena, G, Isacchi, G, Gandini, E
Published in Human genetics (1985)
Published in Human genetics (1985)
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Partial correction of chromosome instability in Fanconi anemia by desferrioxamine
Porfirio, B, Ambroso, G, Giannella, G, Isacchi, G, Dallapiccola, B
Published in Human genetics (01.08.1989)
Published in Human genetics (01.08.1989)
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