Results 291 to 300 of about 1,022,066 (394)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

Comorbidity Between Hikikomori and Autistic Traits May Be Identified as a Phenotypical Presentation Characterized by Greater Severity. [PDF]

open access: yesBrain Sci
Dell'Osso L   +12 more
europepmc   +1 more source

Ezh2 Regulates Early Astrocyte Morphogenesis and Influences the Coverage of Astrocytic Endfeet on the Vasculature

open access: yesCell Proliferation, EarlyView.
Ezh2‐deficient astrocytes showed morphologically more slender but sparse dendrites, resulting in reduced endfoot coverage and also causing disruption of the blood–brain barrier. ABSTRACT Astrocytes are crucial for central nervous system (CNS) development and function, with their differentiation being stringently controlled by epigenetic mechanisms ...
Xinghua Zhao   +9 more
wiley   +1 more source

Autistic Traits Are Associated with Suicidal Thoughts and Behaviors Among Patients with Borderline Personality Disorder. [PDF]

open access: yesBrain Sci
Carpita B   +10 more
europepmc   +1 more source

Exercise Effects for Children With Autism Spectrum Disorder: Metabolic Health, Autistic Traits, and Quality of Life

open access: bronze, 2017
Chrystiane Vasconcelos Andrade Toscano   +2 more
openalex   +1 more source

The risk of epilepsy after neonatal seizures

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16288 Abstract Aim To estimate the cumulative risk of epilepsy after neonatal seizures and identify subpopulations at increased risk. Method This was a nationwide register‐based cohort study including all children born in Denmark between 1997 and 2018.
Jeanette Tinggaard   +6 more
wiley   +1 more source

Alterations in the functional MRI‐based temporal brain organisation in individuals with obesity

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Aims Obesity is associated with functional alterations in the brain. Although spatial organisation changes in the brains of individuals with obesity have been widely studied, the temporal dynamics in their brains remain poorly understood.
Seoah Lee   +3 more
wiley   +1 more source

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

open access: yesEpilepsia, EarlyView.
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa   +28 more
wiley   +1 more source

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