Results 81 to 90 of about 18,875 (272)
Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +1 more source
Resolution of adult-onset cyclic esotropia
Journal of Clinical Ophthalmology and ResearchCyclic esotropia is a rare type of strabismus that has alternating periods of esotropia and orthotropia. We present the case of a 60-year-old male who complained of inward deviation of the right eye for 8–9 years with alternating periods of 12-h ...
Chasin Riamuk Roomching +1 more
doaj +1 more source
New considerations about Duane's syndrome Novas considerações sobre a síndrome de Duane
Revista Brasileira de Oftalmologia, 2009 The author presents his arguments to state that the Duane's syndrome type III of the Huber's classification does not exist. He takes the chance of those arguments to show why the medial rectus muscle recession in Duane's syndrome with esotropia cripples ...
Carlos Ramos de Souza-Dias
doaj +1 more source
Vision screening of Greenlandic children evaluating efficacy, coverage and future directions
Acta Ophthalmologica, Volume 104, Issue S290, Page S4-S24, April 2026.ENGLISH SUMMARY This thesis presents a comprehensive analysis of vision screening of children in Greenland, focusing on the efficacy of the current programme for six‐year‐old schoolchildren, the prevalence of vision impairment, amblyopia and refractive errors among six‐ and four‐year‐old children and the evaluation of a new screening method for ...
Nick Duelund
wiley +1 more source
Cyclic Esotropia: Surgical Treatment Results of Two Cases
Türk 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 retrospective review of ocular alignment after large angle congenital esotropia surgery [PDF]
, 2015 A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa in partial fulfillment of the requirements for the degree of Master of Medicine in Ophthalmology, Johannesburg 2014.Purpose: The
Hollhumer, Roland
core
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson +18 more
wiley +1 more source