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

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

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

af 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.
Udgivet i 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

af 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.
Udgivet i BMC Med Genet (2017)

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

af 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
Udgivet i Oncotarget (2018)

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

af 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
Udgivet 2013