Results 121 to 130 of about 549,939 (390)
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
The I in Autism:severity and social functioning in Autism is related to self-processing [PDF]
, 2017 It is well established that children with autism spectrum disorder (ASD) show impaired understanding of others and deficits within social functioning. However, it is still unknown whether self-processing is related to these impairments and to what extent
Ballantyne, Carrie +4 more
core +7 more sources
A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas +5 more
wiley +1 more source
Crowding and visual search in high functioning adults with autism spectrum disorder [PDF]
, 2010 Purpose: Individuals with autism spectrum disorder have demonstrated faster reaction times when searching for objects in a visual scene. One possible explanation for this observation is that the influence of crowding may not be as strong within this ...
Bowler, D. M. +3 more
core +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
پژوهان, 2019 Background and Objective: Considering the increasing importance of world web wide for the promotion of scientific/educational level of universities, the quality of web presence has been the center of attention during recent years.
Sajjad Farashi +2 more
doaj
A scoping review of deictic gesture use in toddlers with or at-risk for autism spectrum disorder
Autism and Developmental Language Impairments, 2018 Background and aims Young children use deictic gestures, such as pointing, to indicate referents in their immediate environment. Early deictic gesture use is important in facilitating the development of language.
Stacy S Manwaring +3 more
doaj +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino +8 more
wiley +1 more source