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Catalogo Ricerca: [17645] Home page macrotipologia

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1 Contributo su Rivista 13203
- 1.1 Articolo in rivista 12674
- 1.2 Recensione in rivista 43
- 1.3 Scheda bibliografica 0
- 1.4 Nota a sentenza 7
- 1.5 Abstract in rivista 479
- 1.6 Traduzione in rivista 0

2 Contributo in Volume 888

3 Libro 192
- 3.1 Monografia o trattato scientifico 163
- 3.2 Concordanza 0
- 3.3 Indice 0
- 3.4 Bibliografia 0
- 3.5 Edizione critica 1
- 3.6 Pubblicazione di fonti inedite 0
- 3.7 Commento scientifico 0
- 3.8 Traduzione di libro 28

4 Contributo in Atti di Convegno (Proceeding) 2784
- 4.1 Contributo in Atti di convegno 1793
- 4.2 Abstract in Atti di convegno 824
- 4.3 Poster 167

5 Altro 127
- 5.01 Composizione 0
- 5.02 Disegno 0
- 5.03 Design 0
- 5.04 Performance 0
- 5.05 Esposizione 60
- 5.06 Mostra 0
- 5.07 Manufatto 0
- 5.08 Prototipo d'arte e relativi progetti 0
- 5.09 Cartografia 0
- 5.10 Banca dati 1
- 5.11 Software 2
- 5.12 Altro 64
- 5.13 Progetto architettonico 0

6 Brevetti 81
- 6.1 Brevetto 81

7 Curatele 48
- 7.1 Curatela 48

8 Tesi di dottorato 322
- 8.1 Tesi di dottorato 322

Prodotti recenti

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

Background: Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders. Methods: We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands fr...

Neocortical RELN promoter methylation increases significantly after puberty

Reelin plays a pivotal role in neurodevelopment. Excessive RELN promoter methylation and/or decreased RELN gene expression have been described in schizophrenia and autism. We assessed RELN promoter methylation in post-mortem temporocortical tissue (Brodmann Area 41/42) of three prepuberal and six postpuberal normal individuals. The former display very little or no methylation, whereas most postpuberal individuals are heavily methylated, especially at CpG positions located between - 131 and - ...

Association of autism with polyomavirus infection in postmortem brains

Autism is a highly heritable behavioral disorder. Yet, two decades of genetic investigation have unveiled extremely few cases that can be solely explained on the basis of de novo mutations or cytogenetic abnormalities. Vertical viral transmission represents a nongenetic mechanism of disease compatible with high parent-to-offspring transmission and with low rates of disease-specific genetic abnormalities. Vertically transmitted viruses should be found more frequently in the affected tissues of...

Decreased serum arylesterase activity in autism spectrum disorders

The PON1 gene, previously found associated with autism spectrum disorders (ASDs), encodes a serum protein responsible for the detoxification of organophosphates (OPs) and able to exert several enzymatic activities. PON1 arylesterase, but not diazoxonase activity, was significantly decreased in 174 ASD patients compared to 175 first-degree relatives and 144 controls (P=2.65×10-16). First degree relatives displayed intermediate activities, closer to patient than to control levels. Differences b...

Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome

Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT) and Down syndrome (DS) are three neurodevelopmental disorders sharing significant clinical and neuropathological overlaps. Genome-wide expression studies are reviewed and available datasets from post-mortem brains reanalyzed to identify genes and gene pathways dysregulated in all three disorders. Our results surprisingly converge upon immune, and not neurodevelopmental genes, as the most consistently shar...

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