Associated Papers
Characteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).
Fábrega-Torrano M et al.
Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India, 2025
Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.
Drackley A et al.
Ophthalmology. Retina, 2025
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
Viakhireva I et al.
Bone, 2024
A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics.
Fan J et al.
American Journal of Ophthalmology Case Reports, 2023
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.
Corriols-Noval P et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Choi SI et al.
Genes, 2021
Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.
Bałdyga N et al.
Audiology & Neuro-otology, 2021
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
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
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.
Acke FR et al.
Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-maxillo-facial Surgery, 2016
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.
Kondo H et al.
Human Genome Variation, 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 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
Mutation survey in Taiwanese patients with Stickler syndrome.
Huang F et al.
Taiwan Journal of Ophthalmology, 0