Francesca Faravelli

Summary

Affiliation: Galliera Hospital
Country: Italy

Publications

  1. pmc Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
    Elga F Belligni
    Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy
    Ital J Pediatr 35:9. 2009
  2. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
  3. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma Finelli
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
    Mol Cytogenet 5:16. 2012
  4. pmc Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 6:38. 2011
  5. pmc Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
    Angela Bentivegna
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    BMC Med Genet 7:77. 2006

Detail Information

Publications5

  1. pmc Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
    Elga F Belligni
    Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy
    Ital J Pediatr 35:9. 2009
    ..abstract:..
  2. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
    ....
  3. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma Finelli
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
    Mol Cytogenet 5:16. 2012
    ..abstract:..
  4. pmc Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 6:38. 2011
    ..Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause...
  5. pmc Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
    Angela Bentivegna
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    BMC Med Genet 7:77. 2006
    ..3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions...