Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Abdul R et al.
Investigative Ophthalmology & Visual Science, 2025
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Lee H et al.
Molecular Genetics & Genomic Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Stepanova A et al.
Genes, 2023
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Kelbsch C et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected.
Bjeloš M et al.
Case Reports in Ophthalmological Medicine, 2022
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2020
The morphogenesis of granular and lattice corneal dystrophy - A mutation combination hypothesis.
Sabir M
Medical Hypotheses, 2020
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2020
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC et al.
American Journal of Ophthalmology, 2019
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency.
Lorenz B et al.
Investigative Ophthalmology & Visual Science, 2012
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Pasadhika S et al.
Investigative Ophthalmology & Visual Science, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
Preising MN et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA et al.
Ophthalmology, 2005
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
Silva E et al.
Ophthalmic Genetics, 2004
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Thompson DA et al.
Investigative Ophthalmology & Visual Science, 2000
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR et al.
Ophthalmic Genetics, 2000
[Genetic structure of populations and characteristics of geographic distribution of autosomal recessive diseases in the Kirov region].
Ginter EK et al.
Genetika, 1994
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Galvin JA et al.
Retina (philadelphia, Pa.), 0
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0