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Journal Abstract Search

193 related items for PubMed ID: 8096115

  • 1. 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]

  • 2. Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2.
    Benušienė E, Kučinskas V.
    Med Sci Monit; 2000 Jan 15; 6(2):217-26. PubMed ID: 11208313
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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 15; 398(1-2):148-51. PubMed ID: 18755172
    [Abstract] [Full Text] [Related]

  • 6. Linkage analysis in dominantly inherited osteogenesis imperfecta.
    Sykes B.
    Am J Med Genet; 1993 Jan 15; 45(2):212-6. PubMed ID: 8456805
    [Abstract] [Full Text] [Related]

  • 7. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.
    Sykes B, Ogilvie D, Wordsworth P, Wallis G, Mathew C, Beighton P, Nicholls A, Pope FM, Thompson E, Tsipouras P.
    Am J Hum Genet; 1990 Feb 15; 46(2):293-307. PubMed ID: 1967900
    [Abstract] [Full Text] [Related]

  • 8. A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.
    Pepe G.
    Hum Mutat; 1993 Feb 15; 2(4):300-5. PubMed ID: 8104634
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Segregation analysis of dominant osteogenesis imperfecta in Italy.
    Mottes M, Cugola L, Cappello N, Pignatti PF.
    J Med Genet; 1990 Jun 15; 27(6):367-70. PubMed ID: 1972760
    [Abstract] [Full Text] [Related]

  • 11. Molecular heterogeneity in osteogenesis imperfecta type I.
    Willing MC, Pruchno CJ, Byers PH.
    Am J Med Genet; 1993 Jan 15; 45(2):223-7. PubMed ID: 8456806
    [Abstract] [Full Text] [Related]

  • 12. Haplotype frequencies of the collagen type-I genes in the Italian population.
    Mottes M, Cugola L, Pignatti PF.
    Hum Genet; 1989 Nov 15; 83(4):369-72. PubMed ID: 2572536
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.
    Spotila LD, Colige A, Sereda L, Constantinou-Deltas CD, Whyte MP, Riggs BL, Shaker JL, Spector TD, Hume E, Olsen N.
    J Bone Miner Res; 1994 Jun 15; 9(6):923-32. PubMed ID: 8079666
    [Abstract] [Full Text] [Related]

  • 15. [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]

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

  • 17. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
    Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, Dalton A.
    Hum Mutat; 2006 Jul 15; 27(7):716. PubMed ID: 16786509
    [Abstract] [Full Text] [Related]

  • 18. Osteogenesis imperfecta: clinical, biochemical and molecular findings.
    Venturi G, Tedeschi E, Mottes M, Valli M, Camilot M, Viglio S, Antoniazzi F, Tatò L.
    Clin Genet; 2006 Aug 15; 70(2):131-9. PubMed ID: 16879195
    [Abstract] [Full Text] [Related]

  • 19. [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]

  • 20. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
    Ries-Levavi L, Ish-Shalom T, Frydman M, Lev D, Cohen S, Barkai G, Goldman B, Byers P, Friedman E.
    Hum Mutat; 2004 Apr 15; 23(4):399-400. PubMed ID: 15024745
    [Abstract] [Full Text] [Related]

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