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...
- Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literatureChiara Castronovo
Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy
Am J Med Genet A 167:221-30. 2015....
- Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome familySilvia Moncini
Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
Eur J Hum Genet 23:1531-7. 2015..The present study provides a first evidence of allelic imbalance of SOS1 and pinpoints this condition as a possible mechanism underlying a different penetrance of some SOS1-mutated alleles in unrelated carriers. ..
- 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..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...