Results 191 to 200 of about 298,029 (336)

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

open access: yesAmerican 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

Reduced social attention in autism is magnified by perceptual load in naturalistic environments

open access: yesAutism Research, Volume 15, Issue 12, Page 2310-2323, December 2022., 2022
Abstract Individuals with autism spectrum conditions (ASC) describe differences in both social cognition and sensory processing, but little is known about the causal relationship between these disparate functional domains. In the present study, we sought to understand how a core characteristic of autism—reduced social attention—is impacted by the ...
Amanda J. Haskins   +5 more
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Contribution of basal ganglia activity to REM sleep disorder in Parkinson's disease. [PDF]

open access: yesJ Neurol Neurosurg Psychiatry
Yin Z   +16 more
europepmc   +1 more source

Investigating oral health among US adults with sleep disorder: a cross-sectional study. [PDF]

open access: yesBMC Oral Health, 2023
Movahed E   +10 more
europepmc   +1 more source

Sleep-disordered breathing in children [PDF]

open access: bronze, 1998
Christian Guilleminault, Rafael Pelayo
openalex   +1 more source

Home - About - Disclaimer - Privacy