Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Lee K et al.
American Journal of 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
Mechanistically distinct mouse models for CRX-associated retinopathy.
Tran NM et al.
Plos Genetics, 2014
CRX variants in cone-rod dystrophy and mutation overview.
Huang L et al.
Biochemical and Biophysical Research Communications, 2012
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
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
Nichols LL et al.
Human Mutation, 2010
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Paunescu K et al.
Ophthalmology, 2007
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
Chen S et al.
Human Molecular Genetics, 2002
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Rivolta C et al.
Human Mutation, 2001
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
Rivolta C et al.
Human Mutation, 2001
Functional domains of the cone-rod homeobox (CRX) transcription factor.
Chau KY et al.
The Journal of Biological Chemistry, 2000
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki MM et al.
American Journal of Human Genetics, 1998
Vertebrate photoreceptor cell development and disease.
Morrow EM et al.
Trends in Cell Biology, 1998
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.
Freund CL et al.
Nature Genetics, 1998
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Swain PK et al.
Neuron, 1997