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Journal Abstract Search

122 related items for PubMed ID: 8986632

  • 1. 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; 59(2):112-7. PubMed ID: 8986632
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  • 2. 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; 33(6):450-7. PubMed ID: 8782043
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  • 3. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
    Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q.
    BMC Med Genet; 2019 Dec 19; 20(1):200. PubMed ID: 31856751
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  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Richmond CM, Savarirayan R.
    ; 1993 Dec 19. PubMed ID: 31633898
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  • 5. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb 19; 86(2):183-185. PubMed ID: 30209734
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  • 8. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
    Sawai H, Ida A, Nakata Y, Koyama K.
    J Hum Genet; 1998 Feb 19; 43(4):259-61. PubMed ID: 9852679
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  • 10. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
    Bonaventure J, Chaminade F, Maroteaux P.
    Hum Genet; 1995 Jul 19; 96(1):58-64. PubMed ID: 7607655
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  • 13. A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.
    Cammarata-Scalisi F, Matysiak U, Velten T, Callea M, Araque D, Willoughby CE, Galeotti A, Avendaño A.
    Mol Syndromol; 2019 May 19; 10(3):167-170. PubMed ID: 31191206
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  • 14. 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 May 19; 61(3-4):227-33. PubMed ID: 25974987
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  • 15. Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
    McIntosh I, Abbott MH, Francomano CA.
    Hum Mutat; 1995 May 19; 5(2):121-5. PubMed ID: 7749409
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  • 17. 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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  • 19. Hand involvement in Schmid metaphyseal chondrodysplasia.
    Elliott AM, Field FM, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2005 Jan 15; 132A(2):191-3. PubMed ID: 15578582
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