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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Entomotoxicology in burnt bodies: a case of maternal filicide-suicide by fire
Bugelli, V., Papi, L., Fornaro, S., Stefanelli, F., Chericoni, S., Giusiani, M., Vanin, S., Campobasso, C. P.
Published in International journal of legal medicine (01.09.2017)
Published in International journal of legal medicine (01.09.2017)
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Journal Article
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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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
Baser, M E, Kuramoto, L, Woods, R, Joe, H, Friedman, J M, Wallace, A J, Ramsden, R T, Olschwang, S, Bijlsma, E, Kalamarides, M, Papi, L, Kato, R, Carroll, J, Lázaro, C, Joncourt, F, Parry, D M, Rouleau, G A, Evans, D G R
Published in Journal of Medical Genetics (01.07.2005)
Published in Journal of Medical Genetics (01.07.2005)
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Book Review
Creation of an international registry to support discovery in schwannomatosis
Ostrow, K. L., Bergner, A. L., Blakeley, J., Evans, D. G., Ferner, R., Friedman, J. M., Harris, G. J., Jordan, J. T., Korf, B., Langmead, S., Leschziner, G., Mautner, V., Merker, V. L., Papi, L., Plotkin, S. R., Slopis, J. M., Smith, M. J., Stemmer‐Rachamimov, A., Yohay, K., Belzberg, A. J.
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16
Malvagia, S., Papi, L., Morrone, A., Donati, M. A., Ciani, F., Pasquini, E., La Marca, G., Scholte, H. R., Genuardi, M., Zammarchi, E.
Published in Annals of human genetics (01.11.2007)
Published in Annals of human genetics (01.11.2007)
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Journal Article
Sustainability and Technical Constraints for HVDC Conversion of HVAC Overhead Lines
Buono, L., Guarniere, M. R., Palone, F., Cortina, R., Papi, L., Spezie, R., Tresso, G., Marzinotto, M., Pigini, A., Cortina, R.
Published in 2023 AEIT HVDC International Conference (AEIT HVDC) (25.05.2023)
Published in 2023 AEIT HVDC International Conference (AEIT HVDC) (25.05.2023)
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Conference Proceeding
Loadability curves for the new Terna's "5F" high capacity overhead lines
Guarniere, M. R., Palone, F., Spezie, R., Buono, L., Papi, L., Tresso, G., Lauria, S., Maccioni, M.
Published in 2023 IEEE International Conference on Environment and Electrical Engineering and 2023 IEEE Industrial and Commercial Power Systems Europe (EEEIC / I&CPS Europe) (06.06.2023)
Published in 2023 IEEE International Conference on Environment and Electrical Engineering and 2023 IEEE Industrial and Commercial Power Systems Europe (EEEIC / I&CPS Europe) (06.06.2023)
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Conference Proceeding
Switching Overvoltages and Polarity Reversal in Presence of HVDC Circuit Breakers
Buono, L., Palone, F., Papi, L., Spezie, R., Tresso, G., Vacante, P., Lauria, S., Pizzimenti, F., Capponi, F. Giulii
Published in 2023 AEIT HVDC International Conference (AEIT HVDC) (25.05.2023)
Published in 2023 AEIT HVDC International Conference (AEIT HVDC) (25.05.2023)
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Conference Proceeding
A Sustainable Design for the New 500 kV HVDC Italian OHLs
Buono, L., Guarniere, M. R., Marzinotto, M., Palone, F., Papi, L., Spezie, R., Tresso, G., Vacante, P., Pigini, A., Cortina, R.
Published in 2023 AEIT HVDC International Conference (AEIT HVDC) (25.05.2023)
Published in 2023 AEIT HVDC International Conference (AEIT HVDC) (25.05.2023)
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Conference Proceeding
The neurofibromatosis type 2 gene is inactivated in schwannomas
Twist, E C, Ruttledge, M H, Rousseau, M, Sanson, M, Papi, L, Merel, P, Delattre, O, Thomas, G, Rouleau, G A
Published in Human molecular genetics (01.01.1994)
Published in Human molecular genetics (01.01.1994)
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Journal Article
Coronary vasodilation is impaired in both hypertrophied and nonhypertrophied myocardium of patients with hypertrophic cardiomyopathy: A study with nitrogen-13 ammonia and positron emission tomography
Camici, Paolo, Chiriatti, Giampaolo, Lorenzoni, Roberto, Bellina, Riccardo C., Gistri, Roberto, Italiani, Gessica, Parodi, Oberdan, Salvadori, Piero A., Nista, Nicola, Papi, Lauro, L'abbate, Antonio
Published in Journal of the American College of Cardiology (15.03.1991)
Published in Journal of the American College of Cardiology (15.03.1991)
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A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer
Lucci-Cordisco, E, Zollino, M, Baglioni, S, Mancuso, I, Lecce, R, Gurrieri, F, Crucitti, A, Papi, L, Neri, G, Genuardi, M
Published in Clinical genetics (01.02.2005)
Published in Clinical genetics (01.02.2005)
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Journal Article
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences
Rossi, E, Floridia, G, Casali, M, Danesino, C, Chiumello, G, Bernardi, F, Magnani, I, Papi, L, Mura, M, Zuffardi, O
Published in Journal of medical genetics (01.11.1993)
Published in Journal of medical genetics (01.11.1993)
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Journal Article
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Andrieu, Nadine, Azzollini, Jacopo, Balmaña, Judith, Barroso, Alicia, Benítez, Javier, Bertelsen, Birgitte, Blanco, Ana, Bonanni, Bernardo, Borg, Åke, Brunet, Joan, Calistri, Daniele, Calvello, Mariarosaria, Chvojka, Stepan, Cortesi, Laura, Darder, Esther, Del Valle, Jesús, Diez, Orland, Eon-Marchais, Séverine, Fostira, Florentia, Gensini, Francesca, Houdayer, Claude, Janatova, Marketa, Kiiski, Johanna I, Konstantopoulou, Irene, Kubelka-Sabit, Katerina, Lázaro, Conxi, Lesueur, Fabienne, Manoukian, Siranoush, Marcinkute, Ruta, Mickys, Ugnius, Moncoutier, Virginie, Myszka, Aleksander, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Norvilas, Rimvydas, Olah, Edith, Osorio, Ana, Papi, Laura, Peissel, Bernard, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Pócza, Timea, Rossing, Maria, Rudaitis, Vilius, Santamariña, Marta, Santos, Catarina, Smichkoska, Snezhana, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Teixeira, Manuel, Törngren, Therese, Toss, Angela, Urioste, Miguel, Vega, Ana, Vlckova, Zdenka, Yannoukakos, Drakoulis, Zampiga, Valentina, Kleibl, Zdenek, Radice, Paolo, Nevanlinna, Heli, Ehrencrona, Hans, Janavicius, Ramunas, Peterlongo, Paolo
Published in Cancers (26.01.2020)
Published in Cancers (26.01.2020)
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Expression of epidermal growth factor, transforming growth factor-alpha and their receptor in the human oesophagus
Calabrò, A, Orsini, B, Renzi, D, Papi, L, Surrenti, E, Amorosi, A, Herbst, H, Milani, S, Surrenti, C
Published in The Histochemical journal (01.10.1997)
Published in The Histochemical journal (01.10.1997)
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