Maria Clara Bonaglia
IRCCS E. Medea
23842 Bosisio Parini
Lecco
Italy
Name/email consistency: high
- A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. Bonaglia, M.C., Giorda, R., Tenconi, R., Pessina, M., Pramparo, T., Borgatti, R., Zuffardi, O. Eur. J. Hum. Genet. (2005)
- 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb. Bonaglia, M.C., Giorda, R., Carrozzo, R., Roncoroni, M.E., Grasso, R., Borgatti, R., Zuffardi, O. Am. J. Med. Genet. (2002)
- Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Bonaglia, M.C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., Zuffardi, O. Am. J. Hum. Genet. (2001)