BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 8097422)

  • 1. Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.
    Cohn DH; Zhang X; Byers PH
    Hum Mutat; 1993; 2(1):21-7. PubMed ID: 8097422
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.
    Takahara K; Hoffman GG; Greenspan DS
    Genomics; 1995 Oct; 29(3):588-97. PubMed ID: 8575750
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
    Wenstrup RJ; Lever LW; Phillips CL; Quarles LD
    Am J Med Genet; 1993 Jan; 45(2):228-32. PubMed ID: 8456807
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
    Mottes M; Gomez Lira MM; Valli M; Scarano G; Lonardo F; Forlino A; Cetta G; Pignatti PF
    Hum Mutat; 1993; 2(3):196-204. PubMed ID: 8364588
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
    Mackay K; De Paepe A; Nuytinck L; Dalgleish R
    Hum Mutat; 1994; 3(3):324-6. PubMed ID: 8019571
    [No Abstract]   [Full Text] [Related]  

  • 6. 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; 27(7):716. PubMed ID: 16786509
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
    Rose NJ; Mackay K; Byers PH; Dalgleish R
    Hum Mutat; 1994; 3(4):391-4. PubMed ID: 8081394
    [No Abstract]   [Full Text] [Related]  

  • 8. Amino acid sequence environment modulates the disruption by osteogenesis imperfecta glycine substitutions in collagen-like peptides.
    Yang W; Battineni ML; Brodsky B
    Biochemistry; 1997 Jun; 36(23):6930-5. PubMed ID: 9188687
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene.
    Cohen-Solal L; Zolezzi F; Pignatti PF; Mottes M
    Mol Cell Probes; 1996 Jun; 10(3):219-25. PubMed ID: 8799376
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 14(6):329-32. PubMed ID: 11090261
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
    Pace JM; Atkinson M; Willing MC; Wallis G; Byers PH
    Hum Mutat; 2001 Oct; 18(4):319-26. PubMed ID: 11668615
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
    Tiller GE; Rimoin DL; Murray LW; Cohn DH
    Proc Natl Acad Sci U S A; 1990 May; 87(10):3889-93. PubMed ID: 2339128
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene.
    Stacey A; Bateman J; Choi T; Mascara T; Cole W; Jaenisch R
    Nature; 1988 Mar; 332(6160):131-6. PubMed ID: 2450280
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 9(2):148-56. PubMed ID: 9067755
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
    Filie JD; Orrison BM; Wang Q; Lewis MB; Marini JC
    Hum Mutat; 1993; 2(5):380-8. PubMed ID: 8257992
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
    Cohn DH; Byers PH; Steinmann B; Gelinas RE
    Proc Natl Acad Sci U S A; 1986 Aug; 83(16):6045-7. PubMed ID: 3016737
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
    Hawkins JR; Superti-Furga A; Steinmann B; Dalgleish R
    J Biol Chem; 1991 Nov; 266(33):22370-4. PubMed ID: 1939261
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.