Associated Papers
OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?
Grimaldi G et al.
Retina (philadelphia, Pa.), 2024
Diverse functions and pathogenetic role of Crumbs in retinopathy.
Zhou X et al.
Cell Communication and Signaling : Ccs, 2024
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
Daher A et al.
Bmc Ophthalmology, 2024
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 2023
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.
Lopes da Costa B et al.
Biomedicines, 2023
Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.
da Costa BL et al.
Advances in Experimental Medicine and Biology, 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
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
Bellingrath JS et al.
Genes, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Roshandel D et al.
Translational Vision Science & Technology, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A clinical and molecular characterisation of CRB1-associated maculopathy.
Khan KN et al.
European Journal of Human Genetics : Ejhg, 2018
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
de Castro-Miró M et al.
Plos One, 2016
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Corton M et al.
Orphanet Journal of Rare Diseases, 2013
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
Henderson RH et al.
The British Journal of Ophthalmology, 2011
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
González-del Pozo M 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
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
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
Bustamante-Aragones A et al.
Molecular Vision, 2008
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
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI et al.
Human Mutation, 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
CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings.
Ahmed Khan S et al.
Journal of Ophthalmic & Vision Research, 0