Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
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
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
Abdulridha-Aboud W et al.
Molecular Vision, 2016
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Wiszniewski W et al.
Human Genetics, 2011
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E et al.
Investigative Ophthalmology & Visual Science, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH et al.
Investigative Ophthalmology & Visual Science, 2007
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
Preising MN et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007
Guanylate cyclase-activating proteins and retina disease.
Baehr W et al.
Sub-cellular Biochemistry, 2007
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC et al.
Journal of Medical Genetics, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
Ito S et al.
Investigative Ophthalmology & Visual Science, 2004
Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
Sitorus RS et al.
Vision Research, 2003
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
Bernstein PS et al.
Investigative Ophthalmology & Visual Science, 2001
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR et al.
Ophthalmic Genetics, 2000