Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center-Reference-Cited by-同舟云学术

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Published:2018-12 Issue:12 Volume:125 Page:1937-1952
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Brooks Brian P.,Zein Wadih M.^ORCID,Thompson Amy H.^ORCID,Mokhtarzadeh Maryam,Doherty Daniel A.^ORCID,Parisi Melissa,Glass Ian A.,Malicdan May C.,Vilboux Thierry,Vemulapalli Meghana,Mullikin James C.,Gahl William A.,Gunay-Aygun Meral

Publisher

Elsevier BV

Subject

Ophthalmology

Reference59 articles.

1. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol,2013

2. Joubert syndrome and related disorders;Parisi,1993

3. The primary cilium as a cellular receiver: organizing ciliary GPCR signaling;Hilgendorf;Curr Opin Cell Biol,2016

4. Clinical utility gene card for: Joubert syndrome–update 2013;Valente;Eur J Hum Genet,2013

5. Joubert syndrome: genotyping a Northern European patient cohort;Kroes;Eur J Hum Genet,2015

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review;Journal Français d'Ophtalmologie;2024-10

2. Anomalies of Midbrain Hindbrain Development: Midbrain Clefts, Cerebellar Nodular Heterotopia with Overlying Dysgenesis, Cerebellar Foliation Disorder, Pontine Tegmental Cap Dysplasia; Joubert Syndrome; Lhermitte Duclos Syndrome. Diagnosis, Classification and Rehabilitation Hypothesis;Journal of Pediatric Neurology;2024-05-30

3. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders;2024-03-26

4. Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology;Annals of Human Genetics;2023-11-03

5. Non-motile Ciliopathies of the Kidney;Research Journal of Biotechnology;2023-10-15