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Journal Abstract Search

142 related items for PubMed ID: 25863096

  • 1. [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
    Li H, Ji A, Ma L, Wang B, Li Y, Cui Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):240-4. PubMed ID: 25863096
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  • 2. Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
    Li H, Ma L, Wang B, Cui Y, Xiao T.
    Eur Spine J; 2015 Aug; 24(8):1813-9. PubMed ID: 25967556
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  • 3. A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
    Zhou T, Yang X, Chen Z, Zhou Y, Cao X, Zhao C, Zhao J.
    J Clin Lab Anal; 2021 Apr; 35(4):e23728. PubMed ID: 33590889
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  • 4. A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
    Li S, Zhou H, Qin H, Guo H, Bai Y.
    Joint Bone Spine; 2014 Jan; 81(1):86-9. PubMed ID: 23932928
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  • 5. Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
    Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W.
    Eur Spine J; 2016 Sep; 25(9):2967-74. PubMed ID: 27059630
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  • 10. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
    Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT.
    J Bone Miner Res; 2003 Sep; 18(9):1612-21. PubMed ID: 12968670
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  • 11. Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
    Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL.
    Biochem Biophys Res Commun; 2011 Oct 07; 413(4):504-8. PubMed ID: 21924244
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  • 12. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
    Almatrafi A, Alfadhli F, Khan YN, Afzal S, Hashmi JA, Ullah A, Albalawi AM, Basit S.
    Genet Test Mol Biomarkers; 2019 May 07; 23(5):310-315. PubMed ID: 30932712
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  • 19. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
    Cao LH, Wang L, Ji CY, Wang LB, Ma HW, Luo Y.
    Genet Mol Res; 2012 Dec 03; 11(4):4130-7. PubMed ID: 23079993
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