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Journal Abstract Search

119 related items for PubMed ID: 21447328

  • 1. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
    Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X.
    Clin Chim Acta; 2011 Jun 11; 412(13-14):1266-9. PubMed ID: 21447328
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  • 2. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
    Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D.
    Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716
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  • 3. Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
    Mäkitie O, Susic M, Cole WG.
    J Orthop Res; 2010 Nov 15; 28(11):1497-501. PubMed ID: 20872587
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  • 6. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
    Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T.
    J Hum Genet; 2000 Nov 15; 45(2):105-8. PubMed ID: 10721676
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  • 7. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb 15; 86(2):183-185. PubMed ID: 30209734
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  • 9. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
    Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP.
    J Med Genet; 1996 Jun 15; 33(6):450-7. PubMed ID: 8782043
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  • 10. A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.
    Hu X, Zhang X, Li Y, Lou P, Li X, Jiang L.
    Clin Lab; 2015 Jun 15; 61(3-4):227-33. PubMed ID: 25974987
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  • 14. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
    Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
    Nat Genet; 1993 Sep 15; 5(1):79-82. PubMed ID: 8220429
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  • 16. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.
    Stratakis CA, Orban Z, Burns AL, Vottero A, Mitsiades CS, Marx SJ, Abbassi V, Chrousos GP.
    Biochem Mol Med; 1996 Dec 15; 59(2):112-7. PubMed ID: 8986632
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