Synaptopathology involved in autism spectrum disorder
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …
disorders characterized by impaired social communication, social interaction and repetitive …
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
R Pilarski, R Burt, W Kohlman, L Pho… - Journal of the …, 2013 - academic.oup.com
Background PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders
caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic …
caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic …
Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …
Pyramidal cell regulation of interneuron survival sculpts cortical networks
Complex neuronal circuitries such as those found in the mammalian cerebral cortex have
evolved as balanced networks of excitatory and inhibitory neurons. Although the …
evolved as balanced networks of excitatory and inhibitory neurons. Although the …
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
GB Schaefer, NJ Mendelsohn - Genetics in medicine, 2013 - nature.com
The autism spectrum disorders are a collective of conditions that have in common impaired
socialization and communication in association with stereotypic behaviors. The reported …
socialization and communication in association with stereotypic behaviors. The reported …
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
Identification and evaluation of children with autism spectrum disorders
CP Johnson, SM Myers - Pediatrics, 2007 - publications.aap.org
Autism spectrum disorders are not rare; many primary care pediatricians care for several
children with autism spectrum disorders. Pediatricians play an important role in early …
children with autism spectrum disorders. Pediatricians play an important role in early …