Cone Rod Dystrophy Amelogenesis Imperfecta Latest Advances

Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.

Journal: Oral diseases

Published: August 13, 2025

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

Journal: International journal of ophthalmology

Published: March 07, 2025

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: January 02, 2025

Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.

Journal: Cureus

Published: September 04, 2024

Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.

Journal: Scientific reports

Published: June 25, 2024

Dentofacial manifestations in a child with Jalili syndrome.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: October 01, 2023

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report.

Journal: Korean journal of ophthalmology : KJO

Published: November 03, 2022

Novel CNNM4 variant and clinical features of Jalili syndrome.

Journal: Clinical genetics

Published: September 19, 2022

Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations.

Journal: Ophthalmic genetics

Published: December 08, 2021

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.

Journal: Molecular genetics & genomic medicine

Published: October 07, 2021

The emerging roles and therapeutic potential of cyclin M/CorC family of Mg2+ transporters.

Journal: Journal of pharmacological sciences

Published: May 19, 2021

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.

Journal: Ophthalmic genetics

Published: May 06, 2021

Cone Rod Dystrophy Amelogenesis Imperfecta Latest Advances

Find the Latest Research About Cone Rod Dystrophy Amelogenesis Imperfecta

Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.

Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.

Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.

Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.

Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.

Dentofacial manifestations in a child with Jalili syndrome.

Dentofacial manifestations in a child with Jalili syndrome.

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report.

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report.

Novel CNNM4 variant and clinical features of Jalili syndrome.

Novel CNNM4 variant and clinical features of Jalili syndrome.

Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations.

Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations.

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.

The emerging roles and therapeutic potential of cyclin M/CorC family of Mg2+ transporters.

The emerging roles and therapeutic potential of cyclin M/CorC family of Mg2+ transporters.

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.