Results 81 to 90 of about 5,452 (260)

U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Recurrent U2AF2 c.445C>T variant in two cases with systemic dysmorphism, epilepsy, and neurodevelopmental regression suggests a novel spliceosomal gene‐brain disorder link, warranting U2AF2 screening in unexplained neurodevelopmental cases.
Shiqin Huang   +6 more
wiley   +1 more source

Aspectos genéticos em estrabismo [PDF]

open access: yes, 2002
Purpose: To evaluate the genetic aspects of strabismus. Methods: Ophthalmic and orthoptic evaluations were performed prospectively on 110 strabismic probands and 478 relatives.
Bateman, Bronwyn   +2 more
core   +3 more sources

Refractive changes in children with moderate to high astigmatism at a tertiary pediatric academic center

open access: yesOptometry and Vision Science, Volume 102, Issue 10, Page 613-621, October 2025.
SIGNIFICANCE: There is a lack of knowledge on myopic progression in patients with moderate to high astigmatism, which has been compounded by their exclusion from myopia control studies. This study found increased myopia that was linearly associated with age, emphasizing the importance of understanding myopia control treatments in this population ...
Noreen Shaikh   +4 more
wiley   +1 more source

Early Results of Slanted Recession of the Lateral Rectus Muscle for Intermittent Exotropia with Convergence Insufficiency

open access: yesJournal of Ophthalmology, 2015
The aim of this study was to evaluate the efficacy of slanted recession of the lateral rectus muscle for intermittent exotropia with convergence insufficiency. This prospective study included 31 patients who underwent slanted lateral rectus recession for
Bo Young Chun, Kyung Min Kang
doaj   +1 more source

Visual function and color vision in adults with Attention-Deficit/Hyperactivity Disorder [PDF]

open access: yes, 2008
PurposeColor vision and self-reported visual function in everyday life in young adults with Attention-Deficit/Hyperactivity Disorder (ADHD) were investigated.MethodParticipants were 30 young adults with ADHD and 30 controls matched for age and gender ...
Chen, Samantha   +2 more
core   +4 more sources

Effects of Orthoptic Therapy in Children with Intermittent Exotropia After Surgery: Study Protocol for a Randomized Controlled Trial [PDF]

open access: green, 2021
Meiping Xu   +7 more
openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio   +13 more
wiley   +1 more source

Is refraction with a hand-held autorefractometer useful in addition to visual acuity testing and questionnaires in preschool vision screening at 3.5 years in Japan? [PDF]

open access: yes, 2009
The vision-screening program for 3.5-year-old children in Japan consists of 3 steps:questionnaires and home visual acuity testing, visual acuity testing by nurses and inspection by medical officers at regional Public Health Centers, and examinations by ...
Ichiba, Naofumi   +4 more
core   +1 more source

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

open access: yesClinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò   +57 more
wiley   +1 more source

Normative Values for Near and Distance Clinical Tests of Stereoacuity. [PDF]

open access: yes, 2016
PurposeExtensive literature exists on normative stereoacuity values for younger children, but there is less information about normative stereoacuity in older children/adults.
O'Connor, Anna R   +2 more
core   +1 more source

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