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

Autor Palumbo, Orazio, Palumbo, Pietro, Di Muro, Ester, Cinque, Luigia, Petracca, Antonio, Carella, Massimo, Castori, Marco
Vydáno v 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...

Autor Cinque, Luigia, Angeletti, Cristina, Orrico, Alfredo, Castellana, Stefano, Ferrito, Lucia, Ciuoli, Cristina, Mazza, Tommaso, Castori, Marco, Guarnieri, Vito
Vydáno v Biomedicines (2020)

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

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

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

Autor 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
Vydáno v Int J Endocrinol (2020)

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

Autor 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
Vydáno v Endocr Connect (2017)

Novel association of MEN1 gene mutations with parathyroid carcinoma

Autor 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
Vydáno v Oncol Lett (2017)

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

Autor 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
Vydáno v Oncotarget (2018)