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Journal Abstract Search

130 related items for PubMed ID: 31921940

  • 1. A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.
    Chen Q, Wu SN, Chen YX, C SK, Zhang L, Wei HY, Kumar SA.
    Bone Rep; 2020 Jun; 12():100240. PubMed ID: 31921940
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Richmond CM, Savarirayan R.
    ; 1993 Dec. PubMed ID: 31633898
    [Abstract] [Full Text] [Related]

  • 4. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.
    Bateman JF, Freddi S, McNeil R, Thompson E, Hermanns P, Savarirayan R, Lamandé SR.
    Hum Mutat; 2004 Apr; 23(4):396. PubMed ID: 15024737
    [Abstract] [Full Text] [Related]

  • 5. Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.
    Wilson R, Freddi S, Bateman JF.
    J Biol Chem; 2002 Apr 12; 277(15):12516-24. PubMed ID: 11805116
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
    Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y.
    Hum Mutat; 1997 Apr 12; 9(2):131-5. PubMed ID: 9067753
    [Abstract] [Full Text] [Related]

  • 7. Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
    Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, Fang L, Jiang X, Zhao J, Wang Y, Xu C.
    Mol Genet Genomic Med; 2021 May 12; 9(5):e1668. PubMed ID: 33764685
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 19; 9(10):e1758. PubMed ID: 34423584
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 19; 25(6):525-34. PubMed ID: 15880705
    [Abstract] [Full Text] [Related]

  • 12. Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
    Chan D, Freddi S, Weng YM, Bateman JF.
    J Biol Chem; 1999 May 07; 274(19):13091-7. PubMed ID: 10224061
    [Abstract] [Full Text] [Related]

  • 13. 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 May 07; 43(4):259-61. PubMed ID: 9852679
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 33(6):450-7. PubMed ID: 8782043
    [Abstract] [Full Text] [Related]

  • 15. Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.
    Wilson R, Freddi S, Chan D, Cheah KS, Bateman JF.
    J Biol Chem; 2005 Apr 22; 280(16):15544-52. PubMed ID: 15695517
    [Abstract] [Full Text] [Related]

  • 16. 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 22; 10(3):241-246. PubMed ID: 30027601
    [Abstract] [Full Text] [Related]

  • 17. 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 22; 58(3):175-9. PubMed ID: 25542771
    [Abstract] [Full Text] [Related]

  • 18. A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.
    Pokharel RK, Alimsardjono H, Uno K, Fujii S, Shiba R, Matsuo M.
    Biochem Biophys Res Commun; 1995 Dec 26; 217(3):1157-62. PubMed ID: 8554571
    [Abstract] [Full Text] [Related]

  • 19. Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.
    Young AE, Ryun JR, Bannasch DL.
    Mamm Genome; 2006 Jul 26; 17(7):761-8. PubMed ID: 16845471
    [Abstract] [Full Text] [Related]

  • 20. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
    Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M.
    Bone; 2023 Feb 26; 167():116614. PubMed ID: 36400164
    [Abstract] [Full Text] [Related]

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