Associated Papers
Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.
Massengill MT et al.
Genes, 2026
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy.
Lin S et al.
Eye (london, England), 2025
Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.
Banjak M et al.
Bmj Open Ophthalmology, 2025
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.
Hahn LC et al.
Ophthalmology. Retina, 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
Molecular basis of CRX/DNA recognition and stoichiometry at the Ret4 response element.
Srivastava D et al.
Structure (london, England : 1993), 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG et al.
Genes, 2023
Macular dystrophies associated with Stargardt-like phenotypes.
Amaral RAS et al.
Arquivos Brasileiros De Oftalmologia, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Lorenzana-Blanco N et al.
European Journal of Ophthalmology, 2022
Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.
Cui H et al.
International Journal of Ophthalmology, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y et al.
Japanese Journal of Ophthalmology, 2021
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Al-Khuzaei S et al.
Bmc Ophthalmology, 2021
Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy.
Ng CC et al.
Ophthalmic Genetics, 2020
Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Sato T et al.
Acta Ophthalmologica, 2020
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Nishiguchi KM et al.
Clinical & Experimental Ophthalmology, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
Fujinami-Yokokawa Y et al.
Scientific Reports, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y et al.
Journal of Medical Genetics, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E et al.
International Journal of Molecular Sciences, 2019
Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.
Erkilic N et al.
Stem Cell Research, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Joo K et al.
Molecular Vision, 2019
Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
Matsui R et al.
Investigative Ophthalmology & Visual Science, 2015
Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
Yang P et al.
Jama Ophthalmology, 2015
Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.
Tran NM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2014
Mechanistically distinct mouse models for CRX-associated retinopathy.
Tran NM et al.
Plos Genetics, 2014
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
Nichols LL et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Regulation of photoreceptor gene expression by Crx-associated transcription factor network.
Hennig AK et al.
Brain Research, 2008
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Paunescu K et al.
Ophthalmology, 2007
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I et al.
Investigative Ophthalmology & Visual Science, 2005
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
Peng GH et al.
Human Molecular Genetics, 2005
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.
Itabashi T et al.
American Journal of Ophthalmology, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004