Associated Papers
Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.
Abolhasani F et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2025
Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.
Chen C et al.
Investigative Ophthalmology & Visual Science, 2024
Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.
Tian R et al.
Molecular Genetics & Genomic Medicine, 2024
ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.
Fujimoto K et al.
Retina (philadelphia, Pa.), 2021
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
Wang DD et al.
Bmc Medical Genetics, 2020
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
Zhou L et al.
Experimental Eye Research, 2018
Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
Zhou L et al.
Molecular Vision, 2018
Foveal Hypoplasia in Patients with Stickler Syndrome.
Matsushita I et al.
Ophthalmology, 2017
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2015
Stickler syndrome associated with epilepsy: report of three cases.
Savasta S et al.
European Journal of Pediatrics, 2015
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP et al.
European Journal of Human Genetics : Ejhg, 2010
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
Richards AJ et al.
Human Mutation, 2010
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
Richards AJ et al.
Human Mutation, 2006
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
Richards AJ et al.
Investigative Ophthalmology & Visual Science, 2005
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Liberfarb RM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Mutation survey in Taiwanese patients with Stickler syndrome.
Huang F et al.
Taiwan Journal of Ophthalmology, 0