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Journal Abstract Search

117 related items for PubMed ID: 14755465

  • 21. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
    Ma HW, Jiang J, Lu JF, Guo R, Niu GH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun; 22(3):251-3. PubMed ID: 15952107
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  • 22. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease.
    Fiedler J, Bergmann C, Brenner RE.
    Acta Orthop Scand; 2003 Dec; 74(6):737-41. PubMed ID: 14763708
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  • 23. [Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
    Zhou WJ, Zhou SY, Huang SW, Zhou JP, Xu XM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):15-8. PubMed ID: 18247296
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  • 24. Spondyloepiphyseal dysplasia tarda: report of one case.
    Shu SG, Tsai CR, Chi CS.
    Acta Paediatr Taiwan; 2002 Feb; 43(2):106-8. PubMed ID: 12041616
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  • 25. Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
    Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, Chang H, Xie J, Zheng H, Li T, He L.
    Eur J Hum Genet; 2009 Apr; 17(4):510-6. PubMed ID: 19002213
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  • 26. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
    Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y.
    J Genet; 2009 Apr; 88(1):87-91. PubMed ID: 19417549
    [No Abstract] [Full Text] [Related]

  • 27. An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
    Takahashi T, Takahashi I, Tsuchida S, Oyama K, Komatsu M, Saito H, Takada G.
    Clin Genet; 2002 Apr; 61(4):319-20. PubMed ID: 12030902
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  • 31. A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.
    Shi YR, Lee CC, Hsu YA, Wang CH, Tsai FJ.
    Hum Hered; 2002 Apr; 54(1):54-6. PubMed ID: 12446987
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  • 32. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.
    Jang SB, Kim YG, Cho YS, Suh PG, Kim KH, Oh BH.
    J Biol Chem; 2002 Dec 20; 277(51):49863-9. PubMed ID: 12361953
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  • 34. Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men.
    Fiedler J, Bittner M, Puhl W, Brenner RE.
    Clin Genet; 2002 Jul 20; 62(1):94-5. PubMed ID: 12123495
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  • 35. Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
    Won JY, Kim D, Park SY, Lee HR, Lim JS, Park JH, Song MH, Song HR, Kim OH, Kim Y, Cho TJ.
    BMC Med Genet; 2019 May 03; 20(1):70. PubMed ID: 31053099
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  • 36. A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.
    Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM.
    J Med Genet; 2001 Jun 03; 38(6):409-11. PubMed ID: 11424925
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  • 38. Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
    Adachi H, Takahashi I, Takahashi T.
    Pediatr Int; 2014 Dec 03; 56(6):925-928. PubMed ID: 25521980
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  • 40. A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
    Zhang L, Wang J, Dong G, Wu D, Wu W.
    Medicine (Baltimore); 2021 Mar 19; 100(11):e25169. PubMed ID: 33726005
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