Maria Teresa Bonati

Summary

Affiliation: Istituto Auxologico Italiano
Country: Italy

Publications

  1. ncbi request reprint Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations
    Maria Teresa Bonati
    Clinic of Medical Genetics, Istituto Auxologico Italiano, via Viotti 3 5, 20133 Milan, Italy
    Am J Med Genet A 133:184-8. 2005
  2. ncbi request reprint Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
    Maria Teresa Bonati
    Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurogenetics 8:169-78. 2007
  3. doi request reprint Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A
    Guia Guffanti
    Universita degli Studi di Milano, Milan, Italy
    Psychiatry Res 185:33-8. 2011
  4. ncbi request reprint Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    Marco Venturin
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Neurogenetics 7:59-66. 2006
  5. pmc 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
    Lucia Ballarati
    J Med Genet 44:e60. 2007

Collaborators

  • Lidia Larizza
  • Silvia Russo
  • Palma Finelli
  • Silvia Moncini
  • D Giardino
  • M Elia
  • Guia Guffanti
  • Lucia Ballarati
  • Marco Venturin
  • Nardo Nardocci
  • Margherita Estienne
  • Margherita Marchi
  • Lupo Geronazzo
  • Fabio Macciardi
  • Luisa Strik Lievers
  • Gioacchino Scarano
  • Vanna Pecile
  • Maria Grazia Patricelli
  • Teresa Mattina
  • Adalgisa Police
  • Silvana Guerneri
  • Orsetta Zuffardi
  • Stefania Gimelli
  • Sabrina Giglio
  • Elena Rossi
  • Elisabetta Lapi
  • Paola Maraschio
  • Oriana Guzzardi
  • Maria Francesca Bedeschi
  • Giulia Arrigo
  • Valentina Villa
  • Paola Riva

Detail Information

Publications5

  1. ncbi request reprint Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations
    Maria Teresa Bonati
    Clinic of Medical Genetics, Istituto Auxologico Italiano, via Viotti 3 5, 20133 Milan, Italy
    Am J Med Genet A 133:184-8. 2005
    ..2-qter pure trisomy. This karyotype-phenotype study further supports the evidence for a specific phenotype related to trisomy 15q25 or 26-qter and suggests that distal chromosome 15q may be implicated in specific behavioral phenotypes...
  2. ncbi request reprint Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
    Maria Teresa Bonati
    Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurogenetics 8:169-78. 2007
    ..Evaluation of the behaviour domain suggested that repetitive sensory and motor behaviours correlate with a low developmental profile rather than being specific to autism...
  3. doi request reprint Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A
    Guia Guffanti
    Universita degli Studi di Milano, Milan, Italy
    Psychiatry Res 185:33-8. 2011
    ..Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism...
  4. ncbi request reprint Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    Marco Venturin
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Neurogenetics 7:59-66. 2006
    ..Prediction of mRNA and protein secondary structures revealed that two changes lead to putative structural alterations in the mutated c.2254C>G CDK5R1 3'UTR and in OMG T408A gene product...
  5. pmc 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
    Lucia Ballarati
    J Med Genet 44:e60. 2007
    ..Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features...