Pubblicazioni

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

2017 - CLINICAL GENETICS

Torraco, Alessandra; Bianchi, Marzia; Verrigni, Daniela; Gelmetti, Vania; Riley, Lisa; Niceta, Marcello; Martinelli, Diego; Montanari, Arianna; Guo, Yiran; Rizza, Teresa; Diodato, Daria; Di Nottia, Michela; Lucarelli, Barbarella; Sorrentino, Francesco; Piemonte, Fiorella; Francisci, Silvia; Tartaglia, Marco; Valente, Enza Maria; Dionisi Vico, Carlo; Christodoulou, John; Bertini, Enrico; Carrozzo, Rosalba

A novel germline mutation in CDK4 codon 24 associated to familial melanoma

2017 - CLINICAL GENETICS

Bottillo, I; La Starza, R; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, S; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology

2017 - CLINICAL GENETICS

Piceci, F.; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V.

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

2017 - CLINICAL GENETICS

Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco