Associated Papers
Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.
Lu J et al.
International Journal of Ophthalmology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S9-Mono-allelic_variants_in_probands_considered_solved.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
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
Hirji N et al.
American Journal of Ophthalmology, 2018
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C et al.
Eye (london, England), 2015
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
Luder HU et al.
Plos One, 2013
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.
Zobor D et al.
Ophthalmic Genetics, 2012
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA et al.
American Journal of Human Genetics, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B et al.
American Journal of Human Genetics, 2009
Select a paper to view details