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Journal Abstract Search

230 related items for PubMed ID: 7981752

  • 1. 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
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  • 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
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  • 6. 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 16; 85(2):105-12. PubMed ID: 10406661
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  • 7. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.
    Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala-Kokko L.
    Genomics; 1993 Jul 16; 17(1):218-21. PubMed ID: 8406454
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  • 9. 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 16; 43():37-8. PubMed ID: 7752132
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  • 15. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
    Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L.
    Am J Hum Genet; 1999 Oct 16; 65(4):974-83. PubMed ID: 10486316
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  • 16. The phenotypic spectrum of COL2A1 mutations.
    Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S.
    Hum Mutat; 2005 Jul 16; 26(1):36-43. PubMed ID: 15895462
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  • 17. 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 20; 273(8):4761-8. PubMed ID: 9468540
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