Genomes and Genes
Maria Teresa Bonati
Affiliation: Istituto Auxologico Italiano
- Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlationsMaria 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...
- Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genesMaria 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...
- Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia 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...
- Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardationMarco 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...
- 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsLucia Ballarati
J Med Genet 44:e60. 2007..The minimal deletion interval associated with the Dandy-Walker malformation (DWM) was narrowed to the 13q32.2-33.2 region, in which the ZIC2 and ZIC5 genes proposed as underlying various CNS malformations are mapped...