De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intellectual disability, known as AUTS2 syndrome. The AUTS2 gene plays an important role in regulation of neuronal migration, and when altered, associates with a variable phenotype from severely to mildly affected patients. The more severe phenotypes significantly correlate with the presence of defects affecting the C-terminus part of the gene.

Recovery correction for quantitation in emission tomography: a feasibility study.

In emission tomography, the spread of regional tracer uptake to surrounding areas caused by limited spatial resolution of the tomograph must be taken into account when quantitating activity concentrations in vivo. Assuming linearity and stationarity, the relationship between imaged activity concentration and true activity concentration is only dependent on the geometric relationship between the limited spatial resolution of the tomograph in all three dimensions and the three-dimensional size and shape of the object. In particular it is independent of the type of object studied.