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Journal Abstract Search

254 related items for PubMed ID: 14562271

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  • 2. Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
    Ward LM, Lalic L, Roughley PJ, Glorieux FH.
    Hum Mutat; 2001 May; 17(5):434. PubMed ID: 11317364
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  • 3. Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
    Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L.
    Eur J Med Genet; 2013 Dec; 56(12):669-73. PubMed ID: 24140640
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  • 4. Advances in osteogenesis imperfecta.
    Cole WG.
    Clin Orthop Relat Res; 2002 Aug; (401):6-16. PubMed ID: 12151877
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  • 10. Osteogenesis imperfecta types I-XI: implications for the neonatal nurse.
    Womack J.
    Adv Neonatal Care; 2014 Oct; 14(5):309-15; quiz 316-7. PubMed ID: 24950034
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  • 12. Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.
    Mohd Nawawi N, Selveindran NM, Rasat R, Chow YP, Abdul Latiff Z, Syed Zakaria SZ, Jamal R, Abdul Murad NA, Abd Aziz BB.
    Clin Chim Acta; 2018 Sep; 484():141-147. PubMed ID: 29807018
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  • 13. Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
    Kanno J, Saito-Hakoda A, Kure S, Fujiwara I.
    J Bone Miner Metab; 2018 May; 36(3):344-351. PubMed ID: 28528406
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  • 14. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
    Li LJ, Lyu F, Song YW, Wang O, Jiang Y, Xia WB, Xing XP, Li M.
    Chin Med J (Engl); 2019 Jan 20; 132(2):145-153. PubMed ID: 30614853
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  • 18. Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
    Bateman JF, Hannagan M, Chan D, Cole WG.
    Biochem J; 1991 Jun 15; 276 ( Pt 3)(Pt 3):765-70. PubMed ID: 2064612
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  • 20. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
    Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.
    Hum Mutat; 2006 Jun 15; 27(6):599. PubMed ID: 16705691
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