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
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
32039712 (PubMed )
Supplement: 12881_2020_963_MOESM1_ESM.xlsx › Sheet1
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
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
Zechi-Ceide RM et al.
European Journal of Medical Genetics, 0
Mutation survey in Taiwanese patients with Stickler syndrome.
Huang F et al.
Taiwan Journal of Ophthalmology, 0
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