Hyperopia: a meta-analysis of prevalence and a review of associated factors among school-aged children [PDF]
, 2014 Victor Delpizzo Castagno +4 more
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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
Changes in accommodation disorders in children with anisometropic amblyopia and hypermetropia
Acta Biomedica ScientificaBackground. Accommodation disorders in children with hypermetropia is one of the main factors in emmetropization disorders and maintenance of image defocusing.
I. L. Kulikova, K. A. Aleksandrova
doaj +1 more source
No Change in Anterior Chamber Dimensions After Femtosecond LASIK for Hyperopia [PDF]
, 2014 Xiaodong Zhou +5 more
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A Novel UPF1 Variant Associated With a Rare UPF1 ‐Related Neurodevelopmental Disorder
Clinical Genetics, Volume 108, Issue 3, Page 313-317, September 2025.Nonsense‐mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, and aberrant NMD has been linked to neurodevelopmental disorders (NDD). A key player of NMD is UPF1, which is a helicase. Including the current patient, only four individuals with NDD and UPF1 variants have been reported in the ...
Zeynep Tümer +4 more
wiley +1 more source
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
Clinical Genetics, Volume 108, Issue 3, Page 334-346, September 2025.This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut +7 more
wiley +1 more source
Moderate hyperopia prevalence and associated factors among elementary school students [PDF]
, 2015 Victor Delpizzo Castagno +4 more
openalex +1 more source
THE PROBLEM OF PREDICTING THE REFRACTIVE EFFECT IN FEMTOSECOND LASER CORRECTION OF MEDIUM AND HIGH HYPEROPIA [PDF]
, 2021 Т. Н. Фролова, L.S. Khlebnikova
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Ophthalmic and Physiological Optics, Volume 45, Issue 6, Page 1456-1467, September 2025.Abstract Purpose Chronic hyperopic defocus from inadequate accommodation during near tasks may be associated with axial eye growth. This study examined accommodative behaviour and retinal defocus in myopic and emmetropic children after 1 h of continuous electronic device use.
Neeraj K. Singh, Pete Kollbaum
wiley +1 more source
Clinical factors associated with moderate hyperopia in preschool children with normal stereopsis and visual acuity [PDF]
, 2016 Donny W. Suh +9 more
openalex +1 more source