Results 191 to 200 of about 44,744 (292)

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford   +2 more
wiley   +1 more source

Ocular Adverse Events Associated With Antidepressants: A Large‐Scale Data Analysis From the FAERS Database

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This decadal FAERS study (2015–2024) identifies 62,020 ocular adverse events (AEs) across 39 antidepressants, highlighting ocular neuromuscular disorders as a key risk. NDDIs show the strongest associations, while SSRIs exhibit the broadest signal spectrum.
Yiming Peng   +4 more
wiley   +1 more source

Diagnostic Accuracy of a Retinal Birefringence Scanning Device Compared With a Traditional Autorefraction Device.

open access: yesJAMA Ophthalmol
Oatts JT   +7 more
europepmc   +1 more source

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu   +7 more
wiley   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca   +7 more
wiley   +1 more source

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