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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

365 related items for PubMed ID: 24311407

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  • 23. Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.
    Moraes MV, Milanez M, Almada BV, Sipolatti V, Rebouças MR, Nunes VR, Akel AN, Zatz M, Errera FI, Louro ID, Paula F.
    Genet Mol Res; 2012 Sep 13; 11(3):3246-55. PubMed ID: 23079818
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  • 27. Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.
    Hald JD, Folkestad L, Swan CZ, Wanscher J, Schmidt M, Gjørup H, Haubek D, Leonhard CH, Larsen DA, Hjortdal JØ, Harsløf T, Duno M, Lund AM, Jensen JB, Brixen K, Langdahl B.
    Osteoporos Int; 2018 Dec 13; 29(12):2781-2789. PubMed ID: 30143849
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  • 33. Osteogenesis imperfecta with dominant inheritance and normal sclerae.
    Paterson CR, McAllion S, Miller R.
    J Bone Joint Surg Br; 1983 Jan 13; 65(1):35-9. PubMed ID: 6822598
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  • 34. 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 13; 36(3):344-351. PubMed ID: 28528406
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  • 36. 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 13; 27(6):599. PubMed ID: 16705691
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  • 37. Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.
    DeMasters DP, Paulus AO, Scott JN.
    Mil Med; 2023 Jul 22; 188(7-8):e2802-e2804. PubMed ID: 35978537
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  • 39. Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.
    Treurniet S, Burger P, Ghyczy EAE, Verbraak FD, Curro-Tafili KR, Micha D, Bravenboer N, Ralston SH, de Vries R, Moll AC, Eekhoff EMW.
    Acta Ophthalmol; 2022 Feb 22; 100(1):e16-e28. PubMed ID: 34009739
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  • 40. 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 22; 56(12):669-73. PubMed ID: 24140640
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