- Early-onset Tourette syndrome with reversible autistic behaviour: a dysmaturational disorderM Zappella
Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena, Italy
Eur Child Adolesc Psychiatry 11:18-23. 2002..At follow-up tics were present in all, usually with the features of a full-blown Tourette syndrome, often comorbid with ADHD, and in some cases with OCD...
- Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like featuresC Pescucci
Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
Clin Genet 64:497-501. 2003....
- Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defectsS Buoni
Section of Pediatric Neurology, Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
Eur J Neurol 13:842-51. 2006..The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments...
- Rett syndrome and plasma leptin levelsP Blardi
Center of Clinical Pharmacology, the Department of Child Neurology and Psychiatry, University of Siena, Siena, Italy
J Pediatr 150:37-9. 2007..To describe in patients with Rett syndrome (classic and preserved-speech variant) plasma leptin levels and their relationship to BMI (body mass index) and age...
- Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair StudyA Philippe
INSERM U155, Universite Paris VII, France
Hum Mol Genet 8:805-12. 1999..Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013)...
- MECP2 mutation in male patients with non-specific X-linked mental retardationA Orrico
Medical Genetics, Policlinico Le Scotte, Sienna, Italy
FEBS Lett 481:285-8. 2000..These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation...
- Mutation analysis of the MECP2 gene in British and Italian Rett syndrome femalesM Vacca
International Institute of Genetics and Biophysics, CNR, Naples, Italy
J Mol Med (Berl) 78:648-55. 2001....
- MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved regionM Vacca
International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125, Naples, Italy
Brain Dev 23:S246-50. 2001..Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors...
- Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defectsR Zannolli
J Med Genet 40:e121. 2003