Jalili Syndrome Latest Advances

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

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

Journal: Retina (Philadelphia, Pa.)

Published: July 18, 2024

Clinical and Histopathologic Findings in Jalili Syndrome.

Journal: Ophthalmology. Retina

Published: July 12, 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

New insights into the structure and function of CNNM proteins.

Journal: The FEBS journal

Published: March 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

Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.

Journal: International journal of molecular sciences

Published: November 26, 2019

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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.

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

Clinical and Histopathologic Findings in Jalili Syndrome.

Clinical and Histopathologic Findings in Jalili 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.

New insights into the structure and function of CNNM proteins.

New insights into the structure and function of CNNM proteins.

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.

Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.

Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.