Livia Garavelli
Clinical Genetics Unit
Obstetric and Pediatric Department
S. Maria Nuova Hospital
Reggio Emilia
Italy
Name/email consistency: high
- Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Garavelli, L., Zollino, M., Mainardi, P.C., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M., Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N., Neri, G. Am. J. Med. Genet. A (2009)
- Mandibuloacral dysplasia type A in childhood. Garavelli, L., D'Apice, M.R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., Novelli, G. Am. J. Med. Genet. A (2009)
- Mowat-Wilson syndrome. Garavelli, L., Mainardi, P.C. Orphanet. J. Rare. Dis (2007)
- Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. Garavelli, L., Guareschi, E., Errico, S., Simoni, A., Bergonzini, P., Zollino, M., Gurrieri, F., Mancini, G.M., Schot, R., Van Der Spek, P.J., Frigieri, G., Zonari, P., Albertini, E., Giustina, E.D., Amarri, S., Banchini, G., Dobyns, W.B., Neri, G. Neuropediatrics (2007)
- Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Garavelli, L., Pedori, S., Dal Zotto, R., Franchi, F., Marinelli, M., Croci, G.F., Bellato, S., Ammenti, A., Virdis, R., Banchini, G., Superti-Furga, A. Genet. Couns. (2006)
- Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. Garavelli, L., Cerruti-Mainardi, P., Virdis, R., Pedori, S., Pastore, G., Godi, M., Provera, S., Rauch, A., Zweier, C., Zollino, M., Banchini, G., Longo, N., Mowat, D., Neri, G., Bernasconi, S. Horm. Res. (2005)
- MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Garavelli, L., Leask, K., Zanacca, C., Pedori, S., Albertini, G., Della Giustina, E., Croci, G.F., Magnani, C., Banchini, G., Clayton-Smith, J., Bocian, M., Firth, H., Gold, J.A., Hurst, J. Genet. Couns. (2005)
- Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. Garavelli, L., Pedori, S., Zanacca, C., Caselli, G., Loiodice, A., Mantovani, G., Ammenti, A., Virdis, R., Banchini, G. Acta. Bio-medica. :. Atenei. Parmensis (2005)
- Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. Garavelli, L., Zanacca, C., Caselli, G., Banchini, G., Dubourg, C., David, V., Odent, S., Gurrieri, F., Neri, G. Am. J. Med. Genet. A (2004)
- Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. Garavelli, L., Donadio, A., Banchini, G., Magnani, C., Magnani, C., Calzolari, E., Fryns, J.P. Genet. Couns. (2000)
