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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

700 related items for PubMed ID: 7945197

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
    Zhuang J, Tromp G, Kuivaniemi H, Nakayasu K, Prockop DJ.
    Hum Genet; 1993 Apr; 91(3):210-6. PubMed ID: 7916744
    [Abstract] [Full Text] [Related]

  • 6. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
    Chiodo AA, Hockey A, Cole WG.
    J Biol Chem; 1992 Mar 25; 267(9):6361-9. PubMed ID: 1556139
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 271(45):28617-23. PubMed ID: 8910493
    [Abstract] [Full Text] [Related]

  • 8. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
    Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF.
    J Biol Chem; 1990 Oct 05; 265(28):17070-7. PubMed ID: 2145268
    [Abstract] [Full Text] [Related]

  • 9. 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 Oct 05; 2(5):380-8. PubMed ID: 8257992
    [Abstract] [Full Text] [Related]

  • 10. Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
    Nicholls AC, Oliver J, McCarron S, Winter GB, Pope FM.
    Hum Mutat; 1996 Oct 05; 7(3):219-27. PubMed ID: 8829655
    [Abstract] [Full Text] [Related]

  • 11. Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.
    Tromp G, Prockop DJ.
    Proc Natl Acad Sci U S A; 1988 Jul 05; 85(14):5254-8. PubMed ID: 2839839
    [Abstract] [Full Text] [Related]

  • 12. Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
    Ganguly A, Baldwin CT, Strobel D, Conway D, Horton W, Prockop DJ.
    J Biol Chem; 1991 Jun 25; 266(18):12035-40. PubMed ID: 1711048
    [Abstract] [Full Text] [Related]

  • 13. A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.
    Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F, Constantinou-Deltas CD, Cetta G, Pignatti PF.
    Hum Genet; 1994 Jun 25; 93(6):681-7. PubMed ID: 8005592
    [Abstract] [Full Text] [Related]

  • 14. A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.
    Bateman JF, Lamande SR, Dahl HH, Chan D, Mascara T, Cole WG.
    J Biol Chem; 1989 Jul 05; 264(19):10960-4. PubMed ID: 2500431
    [Abstract] [Full Text] [Related]

  • 15. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
    Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF.
    J Biol Chem; 1995 Apr 14; 270(15):8642-9. PubMed ID: 7721766
    [Abstract] [Full Text] [Related]

  • 16. Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
    Mundlos S, Chan D, Weng YM, Sillence DO, Cole WG, Bateman JF.
    J Biol Chem; 1996 Aug 30; 271(35):21068-74. PubMed ID: 8702873
    [Abstract] [Full Text] [Related]

  • 17. An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
    Superti-Furga A, Raghunath M, Pistone FM, Romano C, Steinmann B.
    Connect Tissue Res; 1993 Aug 30; 29(1):31-40. PubMed ID: 8339544
    [Abstract] [Full Text] [Related]

  • 18. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
    Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F.
    J Biol Chem; 1988 Jun 25; 263(18):8561-4. PubMed ID: 2454224
    [Abstract] [Full Text] [Related]

  • 19. Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.
    Chipman SD, Shapiro JR, McKinstry MB, Stover ML, Branson P, Rowe DW.
    J Bone Miner Res; 1992 Jul 25; 7(7):793-805. PubMed ID: 1642148
    [Abstract] [Full Text] [Related]

  • 20. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
    Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.
    Am J Hum Genet; 2004 May 25; 74(5):917-30. PubMed ID: 15077201
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 35.