Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Clinical and Histopathologic Findings in Jalili Syndrome.
Franca M et al.
Ophthalmology. Retina, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.
Lu J et al.
International Journal of Ophthalmology, 2025
New insights into the structure and function of CNNM proteins.
Chen YS et al.
The Febs Journal, 2023
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene.
Maia CMF et al.
European Journal of Medical Genetics, 2018
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C et al.
Eye (london, England), 2015
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L et al.
Ophthalmic Genetics, 2013
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
Yamazaki D et al.
Plos Genetics, 2013
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
Gómez García I et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2011
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
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