Results 111 to 120 of about 691,001 (359)
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
Autistic and transgender/gender diverse people’s experiences of health and healthcare
Molecular AutismBackground Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals ...
Kate Green +4 more
doaj +1 more source
Auditory processing in rodent models of autism: a systematic review [PDF]
, 2022 Maya Wilde +5 more
openalex +1 more source
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
Moral foundations in autistic people and people with systemizing minds
Molecular AutismBackground Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing–systemizing (E–S) theory, to observe the nature of morality in autistic ...
Yeshaya David M. Greenberg +7 more
doaj +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
A Community-Based Accommodation Program for Adults with Autism and Mental Retardation [PDF]
, 2009 There is a paucity of treatment literature for significant and intractable behavior problems in adults with autism and mental retardation. Four adults with autism, severe to profound mental retardation, and serious, long-term behavior problems ...
Fox, Robert A. +2 more
core +1 more source
A Placebo Controlled Crossover Trial of Liquid Fluoxetine on Repetitive Behaviors in Childhood and Adolescent Autism [PDF]
, 2004 Eric Hollander +6 more
openalex +1 more source
Annual Review of Medicine, 2009 Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic ...
openaire +2 more sources