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Journal Abstract Search

133 related items for PubMed ID: 26358419

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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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  • 4. A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.
    Xia X, Cui Y, Huang Y, Pan L, Wu Y, Zhang P, Jin B.
    Clin Chim Acta; 2007 Jul; 382(1-2):148-50. PubMed ID: 17509551
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  • 6. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
    Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H.
    PLoS One; 2015 Jul; 10(6):e0127529. PubMed ID: 26030151
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  • 8. 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.
    Int J Biol Sci; 2020 Jul; 16(5):859-868. PubMed ID: 32071555
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  • 11. 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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  • 12. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
    Girisha KM, Bhavani GS, Shah H, Moirangthem A, Shukla A, Kim OH, Nishimura G, Mortier GR.
    Am J Med Genet A; 2020 Feb; 182(2):338-347. PubMed ID: 31755234
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  • 13. 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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  • 16. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
    Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G.
    Am J Med Genet A; 2016 Jan 07; 170A(1):266-9. PubMed ID: 26420734
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