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 *

183 related articles for article (PubMed ID: 11860074)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
    Körkkö J; Ala-Kokko L; De Paepe A; Nuytinck L; Earley J; Prockop DJ
    Am J Hum Genet; 1998 Jan; 62(1):98-110. PubMed ID: 9443882
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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; 398(1-2):148-51. PubMed ID: 18755172
    [TBL] [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; 25(148):345-8. PubMed ID: 19145934
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I.
    Nuytinck L; Coppin C; De Paepe A
    Matrix Biol; 1998 Jan; 16(6):349-52. PubMed ID: 9503369
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.
    Galicka A; Wołczyński S; Gindzieński A; Surazyński A; Pałka J
    Mol Cell Biochem; 2003 Jun; 248(1-2):49-56. PubMed ID: 12870654
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
    Redford-Badwal DA; Stover ML; Valli M; McKinstry MB; Rowe DW
    J Clin Invest; 1996 Feb; 97(4):1035-40. PubMed ID: 8613526
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
    Wang Q; Forlino A; Marini JC
    J Biol Chem; 1996 Nov; 271(45):28617-23. PubMed ID: 8910493
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
    Willing MC; Pruchno CJ; Atkinson M; Byers PH
    Am J Hum Genet; 1992 Sep; 51(3):508-15. PubMed ID: 1353940
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
    Stover ML; Primorac D; Liu SC; McKinstry MB; Rowe DW
    J Clin Invest; 1993 Oct; 92(4):1994-2002. PubMed ID: 8408653
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
    Willing MC; Deschenes SP; Scott DA; Byers PH; Slayton RL; Pitts SH; Arikat H; Roberts EJ
    Am J Hum Genet; 1994 Oct; 55(4):638-47. PubMed ID: 7942841
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
    Willing MC; Slayton RL; Pitts SH; Deschenes SP
    J Med Genet; 1995 Sep; 32(9):697-700. PubMed ID: 8544188
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 34(5):403-6. PubMed ID: 23601588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. No evidence for disturbed COL1A1 and A2 expression in otosclerosis.
    Csomor P; Liktor B; Liktor B; Sziklai I; Karosi T
    Eur Arch Otorhinolaryngol; 2012 Sep; 269(9):2043-51. PubMed ID: 22130917
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta.
    Lindahl K; Kindmark A; Laxman N; Åström E; Rubin CJ; Ljunggren Ö
    Int J Med Sci; 2013; 10(10):1333-43. PubMed ID: 23983594
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Complete COL1A1 allele deletions in osteogenesis imperfecta.
    van Dijk FS; Huizer M; Kariminejad A; Marcelis CL; Plomp AS; Terhal PA; Meijers-Heijboer H; Weiss MM; van Rijn RR; Cobben JM; Pals G
    Genet Med; 2010 Nov; 12(11):736-41. PubMed ID: 21113976
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Investigation of the human disease osteogenesis imperfecta: a research-based introduction to concepts and skills in biomolecular analysis.
    Mate K; Sim A; Weidenhofer J; Milward L; Scott J
    Biochem Mol Biol Educ; 2013; 41(2):103-9. PubMed ID: 23381775
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.