Genetic history of phenylketonuria mutations in Italy.

Por Dianzani, I., Giannattasio, S., de Sanctis, L., Marra, E., Ponzone, A., Camaschella, C., Piazza, A.
Publicado em 1994

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

Por Font-Llitjos, M, Jimenez-Vidal, M, Bisceglia, L, Di, P, de Sanctis, L, Rousaud, F, Zelante, L, Palacin, M, Nunes, V
Publicado em 2005

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Por Calonge, M J, Volpini, V, Bisceglia, L, Rousaud, F, de Sanctis, L, Beccia, E, Zelante, L, Testar, X, Zorzano, A, Estivill, X
Publicado em 1995

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

Por de Sanctis, L., Giachero, F., Mantovani, G., Weber, G., Salerno, M., Baroncelli, G. I., Elli, M. F., Matarazzo, P., Wasniewska, M., Mazzanti, L., Scirè, G., Tessaris, D.
Publicado no Ital J Pediatr (2016)

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

Por Falcinelli, C, Iughetti, L, Percesepe, A, Calabrese, G, Chiarelli, F, Cisternino, M, De Sanctis, L, Pucarelli, I, Radetti, G, Wasniewska, M, Weber, G, Stuppia, L, Bernasconi, S, Forabosco, A
Publicado em 2002