Cone Rod Dystrophy Amelogenesis Imperfecta Latest Advances

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

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Journal: Molecular genetics & genomic medicine

Published: February 14, 2019

Features, genetics and their correlation in Jalili syndrome: a systematic review.

Journal: Journal of medical genetics

Published: September 04, 2018

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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.

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Features, genetics and their correlation in Jalili syndrome: a systematic review.

Features, genetics and their correlation in Jalili syndrome: a systematic review.