Results 71 to 80 of about 17,913 (203)
Frontiers in Genetics, 2018 Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior ...
María Tarilonte +23 more
doaj +1 more source
Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
wiley +1 more source
DNA diagnosis in a family with autosomal dominant aniridia
, 1991 A large family with autosomal dominant aniridia is described. One of the family members presented with reduced visual acuity, nystagmus, slightly distorted macular reflex, but normal irides and clear media.
Redeker, E. J. +4 more
core +1 more source
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir +7 more
wiley +1 more source
Structural brain abnormalities in 12 persons with aniridia [version 2; referees: 2 approved]
F1000Research, 2017 Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well
Madison K. Grant +4 more
doaj +1 more source
Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1837-1844, November 2025.Abstract Purpose Angle lambda (λ) is defined as the angle between the line of sight and the pupillary axis at the entrance pupil. We previously developed a child‐friendly and portable method to measure this angle in daily practice. In a given population, angle λ fluctuates according to age or refractive error.
Maxence Rateaux +3 more
wiley +1 more source
Combined aniridic intraocular lens implantation and vitreoretinal surgery
Indian Journal of Ophthalmology, 2007 A 45-year-old man presented with post-traumatic aniridia. We describe the combined surgery done to treat both aniridia and epiretinal membrane simultaneously. A combined aniridia intraocular lens and vitreoretinal surgery was done.
Mehta Hitendra +3 more
doaj
Anterior chamber angle in aniridia with and without glaucoma
Clinical Ophthalmology, 2019 Asima Bajwa,1 Eitan Burstein,1 Robert M Grainger,1,2 Peter A Netland11Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2Department of Biology, University of Virginia, Charlottesville, VA, USAPurpose: We ...
Bajwa A +3 more
doaj
PAX6 gene variations associated with aniridia in south India
BMC Medical Genetics, 2004 Background Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south Indian population. Methods Total
Shashikant Shetty +4 more
doaj +1 more source
Keratopathy, cataract, and dry eye in a survey of aniridia subjects
, 2015 David Shiple,1 Brenton Finklea,1 James D Lauderdale,2 Peter A Netland1 1Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2Department of Cellular Biology, University of Georgia, Athens, GA, USA Purpose ...
PA +4 more
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