Paola Cerruti Mainardi

Summary

Country: Italy

Publications

  1. ncbi Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
    P 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
  2. ncbi Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity
    P Cerruti Mainardi
    Pediatric Department and Genetics Unit, S. Andrea Hospital, Vercelli, Italy
    J Med Genet 41:e16. 2004
  3. ncbi The natural history of Cri du Chat Syndrome. A report from the Italian Register
    Paola 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
  4. ncbi Cri du Chat syndrome
    Paola Cerruti Mainardi
    Paediatrics Department and Genetics Unit, S Andrea Hospital, Vercelli, Italy
    Orphanet J Rare Dis 1:33. 2006

Collaborators

  • G Pastore
  • Andrea Guala
  • A Rauch
  • J Overhauser
  • Paola Cerruti Mainardi
  • P C Mainardi
  • Stefania Tamiazzo
  • Mauro Pierluigi
  • Sandro Provera
  • Franca Dagna Bricarelli
  • Chiara Castronovo
  • Michela Godi
  • G Coucourde
  • C Perfumo
  • M Pierluigi
  • F D Bricarelli
  • A Cali
  • F Zara
  • S Cavani

Detail Information

Publications4

  1. ncbi Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
    P 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...
  2. ncbi Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity
    P Cerruti Mainardi
    Pediatric Department and Genetics Unit, S. Andrea Hospital, Vercelli, Italy
    J Med Genet 41:e16. 2004
  3. ncbi The natural history of Cri du Chat Syndrome. A report from the Italian Register
    Paola 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
    ....
  4. ncbi Cri du Chat syndrome
    Paola 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...