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

le Palumbo, Orazio, Palumbo, Pietro, Di Muro, Ester, Cinque, Luigia, Petracca, Antonio, Carella, Massimo, Castori, Marco
Foilsithe 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...

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

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

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

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

le 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
Foilsithe in Int J Endocrinol (2020)

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

le 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
Foilsithe in Endocr Connect (2017)

Novel association of MEN1 gene mutations with parathyroid carcinoma

le 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
Foilsithe in Oncol Lett (2017)

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

le 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
Foilsithe in Oncotarget (2018)