Results 61 to 70 of about 15,009 (276)

Whole Exome-Sequencing of Pooled Genomic DNA Samples to Detect Quantitative Trait Loci in Esotropia and Exotropia of Strabismus in Japanese

open access: yesLife, 2021
Background: Esotropia and exotropia are two major phenotypes of comitant strabismus. It remains controversial whether esotropia and exotropia would share common genetic backgrounds.
Jingjing Zhang   +3 more
doaj   +1 more source

Muscle tendon elongation with bovine pericardium (Tutopatch®) in patients with Graves’ orbitopathy; a prospective, observational, multicentre study

open access: yesActa Ophthalmologica, Volume 104, Issue 1, Page e18-e27, February 2026.
Abstract Purpose Patients with severe ocular motility restriction and/or large angle strabismus due to Graves' orbitopathy (GO) cannot be adequately addressed with conventional strabismus surgery using large muscle recessions. Muscle tendon elongation surgery, using a spacer of bovine pericardium (Tutopatch®) has emerged as a valuable alternative.
H. M. Jellema   +7 more
wiley   +1 more source

Assessment of pattern of refractive errors in infantile esotropia- A single-center cross-sectional study

open access: yesLiaquat Medical Research Journal, 2021
This was a cross-sectional study conducted to explore the patterns of refractive errors found in infantile esotropia patients from newborns to the age of 15 years, attending the Pediatric clinic of Al-Ibrahim Eye Hospital, Karachi, Sindh, Pakistan.
Muhammad Asif Memon   +5 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 108-121, January 2026.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Cyclic Esotropia: Surgical Treatment Results of Two Cases

open access: yesTürk Oftalmoloji Dergisi, 2014
Cyclic esotropia is a rare form of strabismus characterized by alternating periods of esotropia and orthophoric (or almost orthophoric) eye position. Herein, we discuss two children with cyclic esotropia and their surgical treatment results.
Serpil Akar   +4 more
doaj   +1 more source

A Conservative Approach by Unilateral Maximal Single-Muscle Recession Surgery for the Treatment of Cyclic Esotropia

open access: yesCase Reports in Ophthalmological Medicine, 2023
Purpose. Cyclic esotropia (alternate-day squint) is a poorly understood form of strabismus that mostly occurs at younger pediatric ages. It demonstrates classically a 48-hour cycle with 24 hours of manifest esotropia and 24 hours of orthotropia, which is
Cem Evereklioglu   +3 more
doaj   +1 more source

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

open access: yes, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe   +3 more
core   +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart   +336 more
wiley   +1 more source

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