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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

Development and validation of a multiplex-PCR assay for X-linked intellectual d...

BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. There are several genetic causes implicated in this condition, which has hampered the establishment of an accurate diagnosis. We developed a multiplex-PCR assay for the mutational hotspot regions of the FMR1, AFF2 and ARX genes. METHODS: The multiplex-PCR was validated in a cohort of 100 males...

A multiplex assay for x‐linked intellectual disability assessment

Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...

Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes...

Copy number variants involving components of the glutamatergic synaptic pathway...

This work was supported by the fellowships SFRH/BD/79081/2011 to BO, SFRH/BPD/74739/2010 to ICC and SFRH/BPD/64281/2009 to CC from Fundação para a Ciência e a Tecnologia (FCT; Portugal). ; Copy Number Variants (CNVs) play an important role in susceptibility to Autism Spectrum Disorders (ASD), in particular when deleting or duplicating genes involved in synaptic structure and function such as glutamatergic syna...

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Mode...

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we...

Continuous Infusion of Piperacillin/Tazobactam in Septic Critically Ill Patient...

The clinical efficacy of continuous infusion of piperacillin/tazobactam in critically ill patients with microbiologically documented infections is currently unknown. We conducted a retrospective multicenter cohort study in 7 Portuguese intensive care units (ICU). We included 569 critically ill adult patients with a documented infection and treated with piperacillin/tazobactam admitted to one of the participatin...

Origem dos filmes negros sobre património construído : diversos olhares

Os filmes negros desenvolvem-se sobre substrato granítico com morfologia idêntica ao mesmo. A sua eliminação requer métodos abrasivos e/ou químicos por forma a superar a impermeabilidade e dureza característica. A génese de formação dos filmes negros é o elemento fundamental para contribuir para a preservação e sustentabilidade do património construído granítico na perspectiva de minimizar o seu desenvolvimento...

Hidden allergens in food

Food allergies are considered a signif icant food-safety issue, whose preval ence has been increasing mainly in industrialized countries. The presence of non-declared allergens in food due to contamination during production or to misleading labeling represents a potential high risk for allergic individuals. To protect sensitized individuals, highly sensitive methods are required, especially for processed food s...

Protective effect of physical activity on dissatisfaction with body image in ch...