Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 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
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
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y et al.
Plos One, 2025
Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.
Marchelli G et al.
Journal of Pediatric Orthopedics, 2024
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Choi SI et al.
Genes, 2021
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
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
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
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
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
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.
Lund A et al.
Clinical Genetics, 2008
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