Results 1 to 10 of about 9,112 (206)
Asian Journal of Pharmaceutical Sciences, 2022 CRISPR/Cas, an adaptive immune system in bacteria, has been adopted as an efficient and precise tool for site-specific gene editing with potential therapeutic opportunities.
Indumathi Mariappan +2 more
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Genetic testing in retinal dystrophies
Oman Journal of Ophthalmology, 2011 Developments in genetics and technology are bringing with them incredible possibilities in the management and potential cure of patients with retinal dystrophy. In this editorial, we address the issue of genetic testing in retinal dystrophies. In the first section, we provide some background information about genetic testing.
Anuradha Ganesh, Rosanne B Keep
doaj +3 more sources
Relative frequency of inherited retinal dystrophies in Brazil
Scientific Reports, 2018 Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246
Rafael Filippelli-Silva +2 more
exaly +2 more sources
The Molecular Basis of Retinal Dystrophies in Pakistan [PDF]
Genes, 2014 The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease.
, Raheel Qamar, Frans Cremers
exaly +4 more sources
CDHR1 mutations in retinal dystrophies [PDF]
Scientific Reports, 2017 We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene.
Katarina Stingl +9 more
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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico [PDF]
BMC OphthalmologyBackground Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Rocio A. Villafuerte-de la Cruz +14 more
doaj +2 more sources
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
Frontiers in Cell and Developmental Biology, 2021 Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to ...
Yousra Falfoul +2 more
exaly +3 more sources
Review Article. Role of Electrophysiological Methods in Diagnosis of Hereditary Retinal Dystrophies [PDF]
International Journal Bioautomation, 2021 The aim of the study is to present the different electrophysiological methods (EF) for study the retinal function and to highlight their importance in the diagnosis of hereditary retinal dystrophies (HRDs).
Elena Mermeklieva
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Current Issues in Molecular Biology, 2022 RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle.
Mirjana Bjeloš +4 more
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Classifications of peripheral retinal dystrophies
Офтальмохирургия, 2023 Purpuse. To analyze the existing classifications of peripheral retinal dystrophies. Material and methods. While writing a literature review, a search was made for data from domestic and foreign literature, mostly in the last 20 years.
O.M. Stanishevskaya +4 more
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