A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

by Palumbo, Orazio, Palumbo, Pietro, Di Muro, Ester, Cinque, Luigia, Petracca, Antonio, Carella, Massimo, Castori, Marco
Published in Genes (Basel) (2020)

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the...

by Cinque, Luigia, Angeletti, Cristina, Orrico, Alfredo, Castellana, Stefano, Ferrito, Lucia, Ciuoli, Cristina, Mazza, Tommaso, Castori, Marco, Guarnieri, Vito
Published in Biomedicines (2020)

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

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

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

by Cinque, Luigia, Pugliese, Flavia, Clemente, Celeste, Castellana, Stefano, Leone, Maria Pia, de Martino, Danilo, Balsamo, Teresa, Battista, Claudia, Biagini, Tommaso, Graziano, Paolo, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Published in Int J Endocrinol (2020)

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case

by Cinque, Luigia, Sparaneo, Angelo, Salcuni, Antonio S, de Martino, Danilo, Battista, Claudia, Logoluso, Francesco, Palumbo, Orazio, Cocchi, Roberto, Maiello, Evaristo, Graziano, Paolo, Hendy, Geoffrey N, Cole, David E C, Scillitani, Alfredo, Guarnieri, Vito
Published in Endocr Connect (2017)

Novel association of MEN1 gene mutations with parathyroid carcinoma

by Cinque, Luigia, Sparaneo, Angelo, Cetani, Filomena, Coco, Michelina, Clemente, Celeste, Chetta, Massimiliano, Balsamo, Teresa, Battista, Claudia, Sanpaolo, Eliana, Pardi, Elena, D'Agruma, Leonardo, Marcocci, Claudio, Maiello, Evaristo, Hendy, Geoffrey N., Cole, David E.C., Scillitani, Alfredo, Guarnieri, Vito
Published in Oncol Lett (2017)

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

by 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
Published in Oncotarget (2018)