These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

97 related articles for article (PubMed ID: 8125479)

  • 1. Mutation screening by a combination of biotin-SSCP and direct sequencing.
    Virdi AS; Loughlin JA; Irven CM; Goodship J; Sykes BC
    Hum Genet; 1994 Mar; 93(3):287-90. PubMed ID: 8125479
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
    Mackay K; Byers PH; Dalgleish R
    Hum Mol Genet; 1993 Aug; 2(8):1155-60. PubMed ID: 7691343
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 276 ( Pt 3)(Pt 3):765-70. PubMed ID: 2064612
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
    Rose NJ; Mackay K; Byers PH; Dalgleish R
    Hum Genet; 1995 Feb; 95(2):215-8. PubMed ID: 7860070
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
    Mackay K; Lund AM; Raghunath M; Steinmann B; Dalgleish R
    Hum Genet; 1993 Jun; 91(5):439-44. PubMed ID: 8100209
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.
    Rose NJ; Mackay K; De Paepe A; Steinmann B; Punnett HH; Dalgleish R
    Hum Genet; 1994 Nov; 94(5):497-503. PubMed ID: 7959683
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
    Gomez-Lira M; Sangalli A; Pignatti PF; Digilio MC; Giannotti A; Carnevale E; Mottes M
    J Med Genet; 1994 Dec; 31(12):965-8. PubMed ID: 7891382
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
    Edwards MJ; Wenstrup RJ; Byers PH; Cohn DH
    Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
    Zhuang J; Tromp G; Kuivaniemi H; Castells S; Bugge M; Prockop DJ
    Hum Mutat; 1996; 7(2):89-99. PubMed ID: 8829649
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
    Bateman JF; Moeller I; Hannagan M; Chan D; Cole WG
    Hum Mutat; 1992; 1(1):55-62. PubMed ID: 1284475
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
    Zhuang J; Tromp G; Kuivaniemi H; Castells S; Prockop DJ
    Am J Med Genet; 1996 Jan; 61(2):111-16. PubMed ID: 8669434
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.
    Rose NJ; Mackay K; Byers PH; Dalgleish R
    Hum Mol Genet; 1993 Dec; 2(12):2175-7. PubMed ID: 7906591
    [No Abstract]   [Full Text] [Related]  

  • 14. Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.
    Bateman JF; Lamande SR; Hannagan M; Moeller I; Dahl HH; Cole WG
    Am J Med Genet; 1993 Jan; 45(2):233-40. PubMed ID: 8456808
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids.
    Grange DK; Gottesman GS; Lewis MB; Marini JC
    Nucleic Acids Res; 1990 Jul; 18(14):4227-36. PubMed ID: 1696002
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Polymerase chain reaction--amplification of the coding sequence of the type X collagen gene from genomic DNA and identification of a polymorphism that changes Gly to Arg at position 545 by single-strand conformation polymorphism analysis.
    Dharmavaram RM; Peng M; Strawbridge RR; Jimenez SA
    Biochem Biophys Res Commun; 1992 Aug; 187(1):420-4. PubMed ID: 1520329
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The molecular genetics of collagen disorders.
    Smith R
    Clin Sci (Lond); 1986 Aug; 71(2):129-35. PubMed ID: 3522048
    [No Abstract]   [Full Text] [Related]  

  • 18. Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
    Bateman JF; Moeller I; Hannagan M; Chan D; Cole WG
    Biochem J; 1992 Nov; 288 ( Pt 1)(Pt 1):131-5. PubMed ID: 1445258
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
    Mottes M; Sangalli A; Valli M; Gomez Lira M; Tenni R; Buttitta P; Pignatti PF; Cetta G
    Hum Genet; 1992 Jul; 89(5):480-4. PubMed ID: 1634225
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 5.