Results 151 to 160 of about 433,850 (368)
INFANTILE AUTISM, PROCEEDINGS OF THE INDIANA UNIVERSITY COLLOQUIUM [PDF]
, 1972 Steven N. Wolff
openalex +1 more source
Prediction of gaze direction using Convolutional Neural Networks for Autism diagnosis [PDF]
arXiv, 2019 Autism is a developmental disorder that affects social interaction and communication of children. The gold standard diagnostic tools are very difficult to use and time consuming. However, diagnostic could be deduced from child gaze preferences by looking a video with social and abstract scenes.
arxiv
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
Critical region within 22q11.2 linked to higher rate of autism spectrum disorder
Molecular Autism, 2017 Background Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications ...
Caitlin C. Clements +12 more
doaj +1 more source
Genetic heritability and shared environmental factors among twin pairs with autism.
Archives of General Psychiatry, 2011 CONTEXT Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins.
J. Hallmayer +15 more
semanticscholar +1 more source
Collaborative Job Seeking for People with Autism: Challenges and Design Opportunities [PDF]
arXivSuccessful job search results from job seekers' well-shaped social communication. While well-known differences in communication exist between people with autism and neurotypicals, little is known about how people with autism collaborate with their social surroundings to strive in the job market.
arxiv
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source