Results 71 to 80 of about 595 (159)
Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel
Prenatal Diagnosis, Volume 44, Issue 11, Page 1335-1343, October 2024.Abstract Objective This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.
Sha Liu +11 more
wiley +1 more source
Journal of Ophthalmology, Volume 2015, Issue 1, 2015., 2015 The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family members were employed.
Yuuki Arai +8 more
wiley +1 more source
Current developments of gene therapy in human diseases
MedComm, Volume 5, Issue 9, September 2024.Gene therapy has seen remarkable advancements in recent decades, demonstrating its immense potential in treating a wide range of genetic and acquired diseases. Several AAV gene therapy products have been introduced to the market, addressing various conditions.
Fanfei Liu +4 more
wiley +1 more source
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
BMC Medical Genomics, 2021 Background To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort.
Dae Joong Ma +8 more
doaj +1 more source
Effect of early versus late onset of partial visual loss on judgments of auditory distance
Optometry and Vision Science, Volume 101, Issue 6, Page 393-398, June 2024.SIGNIFICANCE It is important to know whether early‐onset vision loss and late‐onset vision loss are associated with differences in the estimation of distances of sound sources within the environment. People with vision loss rely heavily on auditory cues for path planning, safe navigation, avoiding collisions, and activities of daily living.
Shahina Pardhan +5 more
wiley +1 more source
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. [PDF]
PLoS ONE, 2012 Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina.
Yun Wang +12 more
doaj +1 more source
In Vivo Confocal Microscopic Findings of 2 Patients with Bietti Crystalline Corneoretinal Dystrophy
, 2010 Purpose: To describe the clinical and in vivo confocal microscopic findings of the cornea in 2 patients with Bietti crystalline corneoretinal dystrophy using Heidelberg Retina Tomograph II Rostock Cornea Module.
Öztürk, Banu Turgut +5 more
core +1 more source
OPTICAL COHERENCE TOMOGRAPHIC FINDINGS IN BIETTI'S CRYSTALLINE TAPETORETINAL DYSTROPHY
, 2007 Purpose: To report the optical coherence tomography (OCT) findings of Bietti crystalline tapetoretinal dystrophy. Design: Observational case report. Methods: A subject with Bietti crystalline tapetoretinal dystrophy was evaluated with ophthalmoscopy ...
Di Rosa, Luigi +2 more
core +1 more source
Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures
, 2017 Journal of Ophthalmology, Volume 2017, Issue 1, 2017.
Naheed W. Khan +3 more
wiley +1 more source
Bietti's crystalline dystrophy.
Indian journal of ophthalmology, 2003 This first report from India describes 5 cases of Bietti's crystalline dystrophy without corneal involvement.
Dinesh K, Sahu, Abdul B, Rawoof
openaire +1 more source