Results 61 to 70 of about 454,782 (154)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca +7 more
wiley +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 875-887, May 2026.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
ŞAŞILIK CERRAHİSİ SONUÇLARI VE FÜZYONA ETKİSİ
Cerrahpaşa Medical Journal, 2014 Background.. The purpose of this study is to investigate whether fusion develops after surgery in different strabismus types and to evaluate late results of the strabismus surgery.
Kemal DİKİCİ, Melda KIZILKAYA
doaj
Acquired nonaccommodative esotropia in childhood
, 2001 Purpose: Acquired nonaccommodative esotropia (ANAET) in childhood is reported to occur infrequently and is often associated with an underlying neurologic or neoplastic disorder.
Brian G. Mohney, Mohney, Brian G.
core +1 more source
Clinical Classification of Acquired Concomitant Esotropia
, 2021 Background: Classification and management of acquired concomitant esotropia is controversial. We sought to establish a simple clinical classification in order to determine in which cases further investigations in search of underlying pathologies are ...
Klainguti, G. +3 more
core +1 more source
JIMD Reports, Volume 67, Issue 3, May 2026.ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan +7 more
wiley +1 more source
, 2020 Aims To determine the long-term outcome of prismatic correction in consecutive esotropia after bilateral lateral rectus (BLR) recession in children. Methods Of 392 children with exotropia who received BLR recession, 44 developed consecutive esotropia ...
Eun Kyoung Lee +3 more
core
Evaluating a new surgical dosage calculation method for esotropia
Oman Journal of Ophthalmology, 2013 Purpose: To evaluate a simplified method for correction of ocular deviation in patients of infantile and acquired basic esotropia. Materials and Methods: Thirty-six consecutive patients of infantile and acquired basic esotropia were selected for this ...
Siddharth Agrawal +3 more
doaj +1 more source
Consecutive exotropia following strabismus surgery
, 2021 We investigated the clinical factors affecting the development of consecutive exotropia following surgery. The development period of consecutive exotropia, amblyopia and medial rectus functional insufficiency were evaluated in eighty-nine patients with ...
Yolar, M +4 more
core
Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang +8 more
wiley +1 more source