BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 7847372)

  • 1. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
    Tiller GE; Weis MA; Polumbo PA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
    Am J Hum Genet; 1995 Feb; 56(2):388-95. PubMed ID: 7847372
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
    Weis MA; Wilkin DJ; Kim HJ; Wilcox WR; Lachman RS; Rimoin DL; Cohn DH; Eyre DR
    J Biol Chem; 1998 Feb; 273(8):4761-8. PubMed ID: 9468540
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
    Chen L; Yang W; Cole WG
    J Orthop Res; 1996 Sep; 14(5):712-21. PubMed ID: 8893763
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
    Bogaert R; Wilkin D; Wilcox WR; Lachman R; Rimoin D; Cohn DH; Eyre DR
    Am J Hum Genet; 1994 Dec; 55(6):1128-36. PubMed ID: 7977371
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    Chan D; Cole WG
    J Biol Chem; 1991 Jul; 266(19):12487-94. PubMed ID: 1905723
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    Chan D; Taylor TK; Cole WG
    J Biol Chem; 1993 Jul; 268(20):15238-45. PubMed ID: 8325895
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
    Tiller GE; Polumbo PA; Weis MA; Bogaert R; Lachman RS; Cohn DH; Rimoin DL; Eyre DR
    Nat Genet; 1995 Sep; 11(1):87-9. PubMed ID: 7550321
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
    Fernandes RJ; Wilkin DJ; Weis MA; Wilcox WR; Cohn DH; Rimoin DL; Eyre DR
    Arch Biochem Biophys; 1998 Jul; 355(2):282-90. PubMed ID: 9675039
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
    Cui YX; Xia XY; Bu Y; Zhou GH; Yang B; Lu HY; Shi YC; Pan LJ; Huang YF; Li XJ
    Genet Test; 2008 Dec; 12(4):533-6. PubMed ID: 19072565
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
    Winterpacht A; Hilbert M; Schwarze U; Mundlos S; Spranger J; Zabel BU
    Nat Genet; 1993 Apr; 3(4):323-6. PubMed ID: 7981752
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
    Chan D; Rogers JF; Bateman JF; Cole WG
    J Rheumatol Suppl; 1995 Feb; 43():37-8. PubMed ID: 7752132
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Small deletions in the type II collagen triple helix produce kniest dysplasia.
    Wilkin DJ; Artz AS; South S; Lachman RS; Rimoin DL; Wilcox WR; McKusick VA; Stratakis CA; Francomano CA; Cohn DH
    Am J Med Genet; 1999 Jul; 85(2):105-12. PubMed ID: 10406661
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
    Spranger J; Menger H; Mundlos S; Winterpacht A; Zabel B
    Pediatr Radiol; 1994; 24(6):431-5. PubMed ID: 7700721
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
    Godfrey M; Hollister DW
    Am J Hum Genet; 1988 Dec; 43(6):904-13. PubMed ID: 3195588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
    Freisinger P; Ala-Kokko L; LeGuellec D; Franc S; Bouvier R; Ritvaniemi P; Prockop DJ; Bonaventure J
    J Biol Chem; 1994 May; 269(18):13663-9. PubMed ID: 8175802
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
    Cole WG; Hall RK; Rogers JG
    J Med Genet; 1993 Jan; 30(1):27-35. PubMed ID: 8423604
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
    Wilkin DJ; Bogaert R; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
    Hum Mol Genet; 1994 Nov; 3(11):1999-2003. PubMed ID: 7874117
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
    Kawano O; Nakamura A; Morikawa S; Uetake K; Ishizu K; Tajima T
    Am J Med Genet A; 2015 Jul; 167(7):1578-81. PubMed ID: 25900302
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
    Winterpacht A; Superti-Furga A; Schwarze U; Stöss H; Steinmann B; Spranger J; Zabel B
    J Med Genet; 1996 Aug; 33(8):649-54. PubMed ID: 8863156
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.