Results 61 to 70 of about 25,639 (292)
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report [PDF]
, 2009 Udgivelsesdato: 2009-nullABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region ...
Gitte J Almind +4 more
core +3 more sources
Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia
Human Mutation, 2021 Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed a molecular genetic study of a large cohort of Russian patients with AN and revealed four noncoding ...
A. Filatova +6 more
semanticscholar +1 more source
Microorganisms, 2022 Acanthamoeba keratitis (AK) is a dangerous infectious disease, which is associated with a high risk of blindness for the infected patient, and for which no standard therapy exists thus far.
Vithusan Muthukumar +10 more
doaj +1 more source
Isolated traumatic aniridia with full and partial iris expulsion in pseudophakic eyes
BMC Ophthalmology, 2022 Background Total aniridia after ocular trauma without disruption of the intraocular lens (IOL) has been reported in patients with a history of small-incisional cataract surgery. We report one case each of total and partial aniridia after accidental falls
Shoichi Ichioka +4 more
semanticscholar +1 more source
Visual Acuity in Aniridia and WAGR Syndrome
Clinical Ophthalmology, 2023 Michael A Krause,1 Kelly L Trout,2 James D Lauderdale,3 Peter A Netland1 1Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2International WAGR Syndrome Association, Montgomery Village, MD, USA; 3Department
Krause MA +3 more
doaj
Increased functional connectivity in intrinsic neural networks in individuals with aniridia
Frontiers in Human Neuroscience, 2014 Mutations affecting the PAX6 gene result in aniridia, a condition characterized by the lack of an iris and other panocular defects. Among humans with aniridia, structural abnormalities also have been reported within the brain.
Jordan Elisabeth Pierce +7 more
doaj +1 more source
A liquid crystal based contact lens display using PEDOT: PSS and obliquely evaporated SiO2 [PDF]
, 2012 An active spherically conformed liquid crystal cell is presented comprising PEDOT:PSS as a transparent conductive layer and obliquely evaporated SiO2 as an alignment layer. To tackle compatibility issues with the SU8 processing needed for the spacers, an
Avci, Aykut +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +1 more source
Assessing the Spatial Relationship Between Fixation and Foveal Specializations [PDF]
, 2016 Increased cone photoreceptor density, an avascular zone (FAZ), and the displacement of inner retinal neurons to form a pit are distinct features of the human fovea.
Carroll, Joseph +5 more
core +2 more sources
The ocular surface, 2020 PURPOSE To evaluate conjunctival cell microRNA (miRNAs) and mRNA expression in relation to observed phenotype of progressive limbal stem cell deficiency in a cohort of subjects with congenital aniridia with known genetic status.
L. Latta +13 more
semanticscholar +1 more source