Results 201 to 210 of about 163,427 (343)

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

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

open access: yesClinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti   +17 more
wiley   +1 more source

Brain structural and functional impairment network localization in obsessive-compulsive disorder. [PDF]

open access: yesJ Psychiatry Neurosci
Tian Y   +10 more
europepmc   +1 more source

P02.194 Amantadine in patients with obsessive-compulsive disorder and borna disease virus-infection [PDF]

open access: bronze, 2000
Detlef E. Dietrich   +6 more
openalex   +1 more source

The comorbidity of anxiety and depression symptoms in obsessive-compulsive disorder: a network analysis. [PDF]

open access: yesFront Psychiatry
Cheng S   +11 more
europepmc   +1 more source

Toward a Neurobiology of Obsessive-Compulsive Disorder

open access: bronze, 2000
Ann M. Graybiel, Scott L. Rauch
openalex   +1 more source

Brain-behavior relationships in obsessive-compulsive disorder [PDF]

open access: green, 2001
Sanjaya Saxena   +2 more
openalex   +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

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