Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.

Por Martinuzzi, A, Vergani, L, Carrozzo, R, Fanin, M, Bartoloni, L, Angelini, C, Askanas, V, Engel, W K
Publicado em 1993

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

Por Ballabio, A, Parenti, G, Carrozzo, R, Sebastio, G, Andria, G, Buckle, V, Fraser, N, Craig, I, Rocchi, M, Romeo, G
Publicado em 1987

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Por Ballabio, A, Bardoni, B, Carrozzo, R, Andria, G, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, Gimelli, G, Fraccaro, M
Publicado em 1989

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

Por Meroni, G, Reymond, A, Alcalay, M, Borsani, G, Tanigami, A, Tonlorenzi, R, Nigro, C L, Messali, S, Zollo, M, Ledbetter, D H, Brent, R, Ballabio, A, Carrozzo, R
Publicado em 1997

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

Por Carrozzo, R, Rossi, E, Christian, S L, Kittikamron, K, Livieri, C, Corrias, A, Pucci, L, Fois, A, Simi, P, Bosio, L, Beccaria, L, Zuffardi, O, Ledbetter, D H
Publicado em 1997

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Por Tiranti, V, Hoertnagel, K, Carrozzo, R, Galimberti, C, Munaro, M, Granatiero, M, Zelante, L, Gasparini, P, Marzella, R, Rocchi, M, Bayona-Bafaluy, M P, Enriquez, J A, Uziel, G, Bertini, E, Dionisi-Vici, C, Franco, B, Meitinger, T, Zeviani, M
Publicado em 1998

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Por Rossi, E., Piccini, F., Zollino, M., Neri, G., Caselli, D., Tenconi, R., Castellan, C., Carrozzo, R., Danesino, C., Zuffardi, O., Ragusa, A., Castiglia, L., Galesi, O., Greco, D., Romano, C., Pierluigi, M., Perfumo, C., Di, R, Faravelli, F., Bricarelli, F. D., Bonaglia, M., Bedeschi, M., Borgatti, R.
Publicado em 2001