Results 111 to 120 of about 64,340 (272)
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, EarlyView.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Clinical Genetics, EarlyView.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
Test and evaluation of the 2.4-micron photorefractor ocular screening system [PDF]
An improved 2.4-m photorefractor ocular screening system was tested and evaluated. The photorefractor system works on the principal of obtaining a colored photograph of both human eyes; and, by analysis of the retinal reflex images, certain ocular ...
Richardson, J. R.
core +1 more source
Ophthalmology and TherapyIntroduction Primary congenital glaucoma causes vision loss if intraocular pressure is uncontrolled. Nonpenetrating deep sclerectomy is effective in treating primary congenital glaucoma.
Abdulaziz AlQattan +4 more
doaj +1 more source
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
Clinical Genetics, EarlyView.In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith +15 more
wiley +1 more source
Amblyopia and quality of life: a systematic review [PDF]
Background/Aims Amblyopia is a common condition which can affect up to 5% of the general population. The health-related quality of life (HRQoL) implications of amblyopia and/or its treatment have been explored in the literature.
Carlton, J., Kaltenthaler, E.
core
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Developmental Medicine &Child Neurology, EarlyView.Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
wiley +1 more source
Heroin withdrawal as a possible cause of acute concomitant esotropia in adults [PDF]
, 2001 Aim: To report the possible effects of heroin withdrawal on binocular vision. Methods: To present a case series of patients in whom esotropia developed on cessation of heroin use.
Firth, A.Y.
core
Southern Medical Journal, 1944 References" at the end of each chapter except the last. ; Mode of access: Internet.
openaire +1 more source
Developmental Medicine &Child Neurology, EarlyView.Children born very preterm with poorer ophthalmological function at 2 years 6 months, 6 years 6 months, and 12 years showed poorer visuo‐perceptual, visual‐motor, and fine motor skills at 12 years, emphasizing the role of visual input in visual‐motor development.
Martin Johansson +5 more
wiley +1 more source