Associated Papers
Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.
Han C et al.
Bmc Medical Genomics, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Shu QM et al.
Human Genomics, 2025
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
Hussain A et al.
Scientific Reports, 2025
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
Ophthalmic manifestations of Czech dysplasia.
Soh Z et al.
American Journal of Medical Genetics. Part A, 2024
Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.
Tian R et al.
Molecular Genetics & Genomic Medicine, 2024
Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature.
Liu G et al.
Frontiers in Medicine, 2024
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.
Asano M et al.
Ophthalmic Genetics, 2022
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Muirhead KJ et al.
Cold Spring Harbor Molecular Case Studies, 2021
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Choi SI et al.
Genes, 2021
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.
Chen C et al.
American Journal of Ophthalmology, 2020
Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Huang L et al.
Genes, 2020
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
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
Wubben TJ et al.
Ophthalmic Genetics, 2018
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
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
Wang X et al.
Molecular Vision, 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
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
Silveira KC et al.
American Journal of Medical Genetics. Part A, 2015
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
Mark PR et al.
American Journal of Medical Genetics. Part A, 2011
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
The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies.
Richards AJ et al.
Eye (london, England), 2008
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA et al.
Human Mutation, 2007
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
Mutation survey in Taiwanese patients with Stickler syndrome.
Huang F et al.
Taiwan Journal of Ophthalmology, 0
COL2A1 Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.
Shah S et al.
Journal of Vitreoretinal Diseases, 0