Pubblicazioni

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

2018 - BMC MEDICAL GENETICS

Baban, A.; Magliozzi, M.; Loeys, B.; Adorisio, R.; Alesi, V.; Secinaro, A.; Corica, B.; Vricella, L.; Dietz, H. C.; Drago, F.; Novelli, A.; Amodeo, A.

PTCH1 germline mutations and the basaloid follicular hamartoma values in the tumor spectrum of basal cell carcinoma syndrome (NBCCS)

2018 - ANTICANCER RESEARCH

Ponti, Giovanni; Manfredini, Marco; Pastorino, Lorenza; Maccaferri, Monia; Tomasi, Aldo; Pellacani, Giovanni

A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins

2018 - HORMONES

Palermo, Andrea; Capoluongo, Ettore; Del Toro, Rossella; Manfrini, Silvia; Pozzilli, Paolo; Maggi, Daria; Defeudis, Giuseppe; Pantano, Francesco; Coppola, Roberto; Di Matteo, Francesco Maria; Raffaelli, Marco; Concolino, Paola; Falchetti, Alberto