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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

226 related items for PubMed ID: 12925722

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  • 6. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
    Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A.
    Am J Med Genet A; 2013 Oct; 161A(10):2645-51. PubMed ID: 23956136
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  • 7. Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
    Kaitila I, Körkkö J, Marttinen E, Ala-Kokko L.
    Am J Med Genet; 1996 May 03; 63(1):111-22. PubMed ID: 8723096
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  • 9. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.
    Am J Med Genet A; 2017 Mar 03; 173(3):733-739. PubMed ID: 27888646
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  • 10. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
    Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV.
    J Clin Invest; 2005 Oct 03; 115(10):2832-42. PubMed ID: 16167086
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  • 12. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
    Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.
    Hum Mutat; 2016 Jan 03; 37(1):7-15. PubMed ID: 26443184
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  • 15. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    Chan D, Cole WG.
    J Biol Chem; 1991 Jul 05; 266(19):12487-94. PubMed ID: 1905723
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  • 17. 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 05; 35(4):e23728. PubMed ID: 33590889
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