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Journal Abstract Search

237 related items for PubMed ID: 31972903

  • 1. 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.
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1139. PubMed ID: 31972903
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  • 2. 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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  • 3. 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.
    BMC Med Genomics; 2021 Jun 28; 14(1):170. PubMed ID: 34182999
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  • 4. 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 28; 35(4):e23728. PubMed ID: 33590889
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  • 8. 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 28; 25(9):2967-74. PubMed ID: 27059630
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  • 11. 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 28; 23(5):310-315. PubMed ID: 30932712
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  • 13. [Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita].
    Wang Y, Xiao H, Wang Z, Zhao N, Xue Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):694-696. PubMed ID: 31302913
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  • 16. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
    Mark PR, Torres-Martinez W, Lachman RS, Weaver DD.
    Am J Med Genet A; 2011 Jan 10; 155A(1):174-9. PubMed ID: 21204228
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  • 17. 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 10; 24(8):1813-9. PubMed ID: 25967556
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  • 19. Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
    Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q.
    Clin Chim Acta; 2008 Jan 10; 387(1-2):153-7. PubMed ID: 17920052
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