| Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1. | Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.
Wu K, Li Z, Zhu Y, Wang X, Chen G, Hou Z, Zhang Q., Free PMC Article | 07/25/2024 |
| A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head. | A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.
Zhang Z, Zhu K, Dai H, Wang Q, Zhang C, Zhang Z., Free PMC Article | 07/25/2024 |
| The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity. | The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
Viakhireva I, Bychkov I, Markova T, Shatokhina O, Karandasheva K, Udalova V, Bekhtereva Y, Ryzhkova O, Skoblov M. | 03/6/2024 |
| Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. | Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
Ma J, Zhang Y, Ding X, Liang Z, Yang C, Deng Z, He H, Guan Z, Zeng C, Lin Y, Luo X., Free PMC Article | 09/15/2023 |
| Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. | Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
Jacobson A, Besirli CG, Bohnsack BL., Free PMC Article | 05/5/2023 |
| Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. | Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M. | 01/14/2023 |
| Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene. | Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.
Asano M, Yokoyama K, Oku K, Matsushita I, Kimoto K, Kubota T, Kondo H. | 09/17/2022 |
| Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions: A genetic association study and in silico analysis. | Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions: A genetic association study and in silico analysis.
Kalmari A, Arash V, Colagar AH. | 09/17/2022 |
| Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1. | Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.
Bath F, Swanson D, Zavala H, Chinnadurai S, Roby BB. | 07/16/2022 |
| Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype. | Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
Demal TJ, Scholz T, Schüler H, Olfe J, Fröhlich A, Speth F, von Kodolitsch Y, Mir TS, Reichenspurner H, Kubisch C, Hempel M, Rosenberger G., Free PMC Article | 05/7/2022 |
| A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I. | A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.
Liu X, Dong H, Gong Y, Wang L, Zhang R, Zheng T, Zheng Y, Shen S, Zheng C, Tian M, Liu N, Zhang X, Zheng QY., Free PMC Article | 04/30/2022 |
| Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family. | Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
Wu H, Che S, Li S, Cheng Y, Xiao J, Liu Z., Free PMC Article | 03/26/2022 |
| Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I. | Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S., Free PMC Article | 02/26/2022 |
| Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1. | Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Choi SI, Woo SJ, Oh BL, Han J, Lim HT, Lee BJ, Joo K, Park JY, Jang JH, So MK, Kim SJ., Free PMC Article | 02/12/2022 |
| CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1. | CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1.
Jokoji G, Maeda S, Oishi K, Ijuin T, Nakajima M, Tawaratsumida H, Kawamura I, Tominaga H, Taketomi E, Ikegawa S, Taniguchi N., Free PMC Article | 12/4/2021 |
| De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia. | De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
Zhang T, Sun X, Li M, Huang H. | 10/30/2021 |
| Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1. | Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.
Swanson D, Ba'th F, Zavala H, Chinnadurai S, Roby BB. | 09/4/2021 |
| Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. | Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.
Xu Y, Li L, Wang C, Yue H, Zhang H, Gu J, Hu W, Liu L, Zhang Z., Free PMC Article | 08/21/2021 |
| A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome. | A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
Sun W, Xiao X, Li S, Jia X, Zhang Q. | 07/24/2021 |
| Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1. | Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Al-Sannaa NA, Hoornaert KP, Van Laer L, Al-Abdulwahed HY, Mortier G. | 06/5/2021 |
| Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis. | Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
Rolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R. | 05/8/2021 |
| Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita. | Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Xing XP, Li M., Free PMC Article | 04/3/2021 |
| Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I. | Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
Wang DD, Gao FJ, Hu FY, Li JK, Zhang SH, Xu P, Chang Q, Jiang R, Wu JH. | 04/3/2021 |
| Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. | Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. | 03/27/2021 |
| Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. | Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Huang L, Chen C, Wang Z, Sun L, Li S, Zhang T, Luo X, Ding X., Free PMC Article | 03/20/2021 |