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136 related items for PubMed ID: 25974987

  • 1. 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; 61(3-4):227-33. PubMed ID: 25974987
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  • 3. 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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  • 4. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb; 86(2):183-185. PubMed ID: 30209734
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  • 5. Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
    Park H, Hong S, Cho SI, Cho TJ, Choi IH, Jin DK, Sohn YB, Park SW, Cho HH, Cheon JE, Kim SY, Kim JY, Park SS, Seong MW.
    Eur J Med Genet; 2015 Mar; 58(3):175-9. PubMed ID: 25542771
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  • 7. 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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  • 8. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
    Ain NU, Makitie O, Naz S.
    J Med Genet; 2018 Jun 15; 55(6):403-407. PubMed ID: 28830906
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  • 9.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Richmond CM, Savarirayan R.
    ; 1993 Jun 15. PubMed ID: 31633898
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  • 10. 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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  • 11. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
    Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG.
    Orthop Surg; 2018 Aug 15; 10(3):241-246. PubMed ID: 30027601
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  • 13. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 15; 25(6):525-34. PubMed ID: 15880705
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  • 14. A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia.
    Matsui Y, Kimura T, Tsumaki N, Yasui N, Ochi T.
    Jpn J Hum Genet; 1996 Sep 15; 41(3):339-42. PubMed ID: 8996971
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  • 16. 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 15; 10(3):167-170. PubMed ID: 31191206
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  • 18. Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation.
    Woelfle JV, Brenner RE, Zabel B, Reichel H, Nelitz M.
    J Orthop Sci; 2011 Mar 15; 16(2):245-9. PubMed ID: 21360259
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  • 19. Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
    Ye Y, Li W, Wang G, Zhan L, Lin J, Li T, Zhang J.
    Mol Genet Genomic Med; 2021 Oct 15; 9(10):e1758. PubMed ID: 34423584
    [Abstract] [Full Text] [Related]

  • 20. 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 Oct 15; 45(2):105-8. PubMed ID: 10721676
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