Eva W C Chow

..This case adds to the limited literature on female pedophiles and suggests that SSRIs may be an effective treatment for paraphilic disorders in female sex offenders...

..2 deletion syndrome, as for schizophrenia in the general population, would be gray matter volumetric deficits, especially in the temporal lobes...

..We hypothesized that in adults with 22qDS the neurocognitive profiles would differ between those with and without schizophrenia...

..55 (1.01, 2.38)). The results provide further support that early environmental exposures influence schizophrenia expression even in the presence of strong genetic predisposition...

..Individuals with 22qDS are at genetically high risk for schizophrenia...

..COMT is within the region commonly deleted in 22q11 deletion syndrome (22q11DS), a syndrome with high prevalence of schizophrenia. We examined the role of COMT in schizophrenia-related expression in 22q11DS...

..61, 11.91, respectively). The results suggest that childhood trauma is associated with expression of schizophrenia independent of measured genetic susceptibility and may be a candidate for gene-environment research using genetic variants...

..2DS. The results reinforce the need for further efforts to identify specific molecular mechanisms underlying this expression and to identify the 1% of patients with schizophrenia who carry 22q11.2 deletions...

..2 deletion is found to have been inherited, usually from an affected mother. Serious neuropsychiatric conditions that are commonly associated features of 22q11.2DS could disproportionately affect reproductive success in males...

..There are limited data on adult functioning in 22q11.2 deletion syndrome...

..These results suggest that the changes are primarily due to genetic risk and not illness effects, and may represent an intermediate phenotype...

..Composite measures of memory or processing speed may be heritable phenotypes useful for studies of neurocognition...

..Identifying large, rare CNVs (particularly 22q11.2 deletions) can lead to significant changes in management, follow-up, and genetic counselling that are helpful to the patient, family, and clinicians...

..22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia...

..We aimed to determine an optimal combination of extracardiac features that could be clinically helpful in identifying adults with tetralogy of Fallot (TOF) and related conotruncal anomalies at highest risk for 22q11.2DS...

..Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms...

..Prospective studies of mild head injury should consider genetic predisposition for possible long-term neurobehavioral sequelae...

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..These findings have potential implications for the genetic counseling of families of those with 22q11DS and support the notion that interacting genetic variants might contribute to the variable expression of 22q11DS...

..Altogether, our work further supports our hypothesis that MECP2_e1 is the predominant isoform involved in the neuropathology of Rett syndrome...

..22q11 Deletion Syndrome may provide a valuable genetic neurodevelopmental model for investigating the relationship between abnormalities in brain development and the expression of schizophrenia...

..Consistent with several recently identified candidate genes for schizophrenia, CAPON is involved in signal transduction in the NMDA receptor system, highlighting the potential importance of this pathway in the etiology of schizophrenia...

..This duplication may be involved in genomic instability, leading to gene deletion, and so presents an intriguing candidate locus for schizophrenia susceptibility...