A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

von Mastromatteo, Eugenio, Lamacchia, Olga, Campo, Michela Rosaria, Conserva, Antonella, Baorda, Filomena, Cinque, Luigia, Guarnieri, Vito, Scillitani, Alfredo, Cignarelli, Mauro
Veröffentlicht 2014

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

von Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E. C.
Veröffentlicht in BMC Med Genet (2017)

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

von Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E.C.
Veröffentlicht in BMC Med Genet (2017)

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion

von Muscarella, Lucia Anna, Turchetti, Daniela, Fontana, Andrea, Baorda, Filomena, Palumbo, Orazio, la Torre, Annamaria, de Martino, Danilo, Franco, Renato, Losito, Nunzia Simona, Repaci, Andrea, Pagotto, Uberto, Cinque, Luigia, Copetti, Massimiliano, Chiofalo, Maria Grazia, Pezzullo, Luciano, Graziano, Paolo, Scillitani, Alfredo, Guarnieri, Vito
Veröffentlicht in Oncotarget (2018)

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

von Pazienza, Valerio, la Torre, Annamaria, Baorda, Filomena, Alfarano, Michela, Chetta, Massimiliano, Muscarella, Lucia Anna, Battista, Claudia, Copetti, Massimiliano, Kotzot, Dieter, Kapelari, Klaus, Al-Abdulrazzaq, Dalia, Perlman, Kusiel, Sochett, Etienne, Cole, David E. C., Pellegrini, Fabio, Canaff, Lucie, Hendy, Geoffrey N., D’Agruma, Leonardo, Zelante, Leopoldo, Carella, Massimo, Scillitani, Alfredo, Guarnieri, Vito
Veröffentlicht 2013