Associated Papers
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
36099972 (PubMed )
Supplement: mmc4.pdf
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW et al.
Investigative Ophthalmology & Visual Science, 2011
The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
Davis JA et al.
The Journal of Biological Chemistry, 2007
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI et al.
Human Mutation, 2004
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
Mehalow AK et al.
Human Molecular Genetics, 2003
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal S et al.
Journal of Medical Genetics, 2003
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander AI et al.
Nature Genetics, 1999
Select a paper to view details