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Journal Abstract Search

291 related items for PubMed ID: 9752968

  • 1. Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.
    McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL.
    Am J Otol; 1998 Sep; 19(5):604-10. PubMed ID: 9752968
    [Abstract] [Full Text] [Related]

  • 2. Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta.
    McKenna MJ, Kristiansen AG, Tropitzsch AS.
    Ann Otol Rhinol Laryngol; 2002 Feb; 111(2):184-9. PubMed ID: 11860074
    [Abstract] [Full Text] [Related]

  • 3. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
    Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.
    Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
    [Abstract] [Full Text] [Related]

  • 4. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
    Gajko-Galicka A.
    Acta Biochim Pol; 2002 Dec; 49(2):433-41. PubMed ID: 12362985
    [Abstract] [Full Text] [Related]

  • 5. Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.
    Mottes M, Sangalli A, Pignatti PF.
    Am J Med Genet; 1993 Jan 15; 45(2):217-22. PubMed ID: 8096115
    [Abstract] [Full Text] [Related]

  • 6. [Molecular diagnosis of osteogenesis imperfecta type I].
    Galicka A, Bielawski T, Gindzieński A, Sredzińska K.
    Pol Merkur Lekarski; 2008 Oct 15; 25(148):345-8. PubMed ID: 19145934
    [Abstract] [Full Text] [Related]

  • 7. Studies of otic capsule morphology and gene expression in the Mov13 mouse--an animal model of type I osteogenesis imperfecta.
    Stankovic KM, Kristiansen AG, Bizaki A, Lister M, Adams JC, McKenna MJ.
    Audiol Neurootol; 2007 Oct 15; 12(5):334-43. PubMed ID: 17595534
    [Abstract] [Full Text] [Related]

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

  • 9. Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.
    Körkkö J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, DePaepe A, Prockop DJ, Ala-Kokko L.
    Hum Mutat; 1997 Jun 15; 9(2):148-56. PubMed ID: 9067755
    [Abstract] [Full Text] [Related]

  • 10. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
    Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L.
    Hum Mutat; 2004 Aug 15; 24(2):147-54. PubMed ID: 15241796
    [Abstract] [Full Text] [Related]

  • 11. Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.
    Mirandola S, Pignatti PF, Mottes M.
    Mol Cell Probes; 2000 Dec 15; 14(6):329-32. PubMed ID: 11090261
    [Abstract] [Full Text] [Related]

  • 12. Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.
    Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ, Fukushima K, Thys M, Camp GV, Smith RJ.
    Clin Genet; 2007 May 15; 71(5):406-14. PubMed ID: 17489845
    [Abstract] [Full Text] [Related]

  • 13. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
    Qin W, He JX, Shi J, Xing QH, Gao JJ, He L, Qian XQ, Liu ZJ, Shu AL, He L.
    Yi Chuan Xue Bao; 2005 Mar 15; 32(3):248-52. PubMed ID: 15931785
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 17(5):434. PubMed ID: 11317364
    [Abstract] [Full Text] [Related]

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  • 17. Association of COL1A1 polymorphism in Turkish patients with otosclerosis.
    Ertugay OC, Ata P, Kalaycik Ertugay C, Kaya KS, Tatlipinar A, Kulekci S.
    Am J Otolaryngol; 2013 May 15; 34(5):403-6. PubMed ID: 23601588
    [Abstract] [Full Text] [Related]

  • 18. Osteogenesis imperfecta: prospects for molecular therapeutics.
    Forlino A, Marini JC.
    Mol Genet Metab; 2000 May 15; 71(1-2):225-32. PubMed ID: 11001814
    [Abstract] [Full Text] [Related]

  • 19. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.
    Benusiené E, Kucinskas V.
    J Appl Genet; 2003 May 15; 44(1):95-102. PubMed ID: 12590186
    [Abstract] [Full Text] [Related]

  • 20. RNAi of COL1A1 in mesenchymal progenitor cells.
    Millington-Ward S, McMahon HP, Allen D, Tuohy G, Kiang AS, Palfi A, Kenna PF, Humphries P, Farrar GJ.
    Eur J Hum Genet; 2004 Oct 15; 12(10):864-6. PubMed ID: 15241481
    [Abstract] [Full Text] [Related]

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