Results 181 to 190 of about 361,059 (344)

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons   +17 more
wiley   +1 more source

Unveiling autism spectrum disorder for the pediatrician. [PDF]

open access: yesJ Pediatr (Rio J)
Vasconcelos MM   +2 more
europepmc   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

open access: yesEpilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov   +10 more
wiley   +1 more source

Unraveling pathogenesis and potential biomarkers for autism spectrum disorder associated with HIF1A pathway based on machine learning and experiment validation

open access: gold
J. Jean Cui   +11 more
openalex   +1 more source

Autism Behavior Inventory: A Novel Tool for Assessing Core and Associated Symptoms of Autism Spectrum Disorder [PDF]

open access: bronze, 2017
Abi Bangerter   +11 more
openalex   +1 more source

From Brain Health to Brain Economy

open access: yes
Brain Health, EarlyView.
Yongjun Wang
wiley   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

open access: yesEpilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt   +17 more
wiley   +1 more source

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