Paola Cerruti Mainardi
- Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationP C Mainardi
Divisione di Pediatria e Servizio di Genetica, Ospedale S Andrea, Cso M Abbiate 21, 13100 Vercelli, Italy
J Med Genet 38:151-8. 2001..3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay...
- Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entityP Cerruti Mainardi
Pediatric Department and Genetics Unit, S. Andrea Hospital, Vercelli, Italy
J Med Genet 41:e16. 2004
- The natural history of Cri du Chat Syndrome. A report from the Italian RegisterPaola Cerruti Mainardi
Paediatrics Department and Genetics Unit, S Andrea Hospital, corso M Abbiate, 21, 13100 Vercelli, Italy
Eur J Med Genet 49:363-83. 2006....
- Cri du Chat syndromePaola Cerruti Mainardi
Paediatrics Department and Genetics Unit, S Andrea Hospital, Vercelli, Italy
Orphanet J Rare Dis 1:33. 2006..There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients...