Results 41 to 50 of about 13,743 (257)
Clinical Genetics, EarlyView.ABSTRACT The DOCK3 gene (NM_004947.5) is located on chromosome 3p21.2 spanning 53 exons and encodes the dedicator of cytokinesis 3 protein. DOCK3 belongs to the family of guanine nucleotide exchange factors (GEFs) that activate GTPases. DOCK3 is expressed almost exclusively in the central nervous system and has been shown to promote axonal outgrowth ...
Khurram Liaqat +7 more
wiley +1 more source
Analysis of double medium rectus recession in esotropic patients with near/distance incomitance [PDF]
, 2001 Introduction: Accommodative convergence (AC) is the convergence induced by a determined amount of accommodation (A). Besides the many techniques described to correct esotropias, great distance/near incomitance is still a challenge in avoiding secondary ...
Andrade, Eric Pinheiro De +3 more
core +2 more sources
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab
Pediatric Dermatology, EarlyView.ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux +4 more
wiley +1 more source
Outcome of Esotropia Surgery in 2 Tertiary Hospitals in Cameroon
Clinical Ophthalmology, 2020 Viola Andin Dohvoma,1,2 Stève Robert Ebana Mvogo,1 Jean Audrey Ndongo,1 Caroline Tsimi Mvilongo,2 Côme Ebana Mvogo1,2 1Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 2Yaoundé ...
Dohvoma VA +4 more
doaj
Case Reports in Ophthalmology, 2015 Background: Acute comitant esotropia secondary to heroin withdrawal is a rarely reported phenomenon that has never been described with nystagmus. Adverse effects of heroin on eye alignment were first reported in soldiers returning from Vietnam, yet no ...
Richard L. Rabin
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source
Acta Médica del Centro, 2008 Cyclic esotropia is a very rare form of esotropia, a particular clinical form of deviation related to the circadian cycle or biological clock. It is an acquired esotropia occurring in patients of all ages, though it is more frequent between 2 and 6 years
Ana Isabel Santana Machado +2 more
doaj
British and Irish Orthoptic Journal, 2011 Aim: Convergence excess accommodative esotropia describes an esotropia on accommodation at near fixation that is controlled to an esophoria/orthophoria at distance fixation with binocular single vision.
Tess Garretty
doaj +1 more source
Liaquat 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