Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I et al.
Scientific Reports, 2020
Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2018
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM et al.
The Journal of Clinical Investigation, 2018
29202463 (PubMed )
Supplement: jci-128-95161-s001.pdf
Identifying mutations in Tunisian families with retinal dystrophy.
Habibi I et al.
Scientific Reports, 2016
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin M et al.
Ophthalmic Genetics, 2016
Select a paper to view details