Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta-Reference-Cited by-同舟云学术

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Published:2018-04 Issue: Volume:188 Page:123-130
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Hirji Nashila,Bradley Patrick D.,Li Shuning,Vincent Ajoy,Pennesi Mark E.,Thomas Akshay S.,Heon Elise,Bhan Aparna,Mahroo Omar A.,Robson Anthony,Inglehearn Chris F.,Moore Anthony T.,Michaelides Michel

Publisher

Elsevier BV

Subject

Ophthalmology

Reference20 articles.

1. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome;Jalili;J Med Genet,1988

2. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta;Michaelides;J Med Genet,2004

3. Mutations in CNNM4 cause Jalili Syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta;Parry;Am J Hum Genet,2009

4. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis;Michaelides;Surv Ophthalmol,2006

5. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype;Aleman;Exp Eye Res,2002

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1. Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome;Cureus;2024-09-04

2. New insights into the structure and function of CNNM proteins;The FEBS Journal;2023-06-02

3. Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome;Molecular Genetics & Genomic Medicine;2022-02-12

4. Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations;Ophthalmic Genetics;2021-12-07

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