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Journal Abstract Search

288 related items for PubMed ID: 14624098

  • 1. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
    Fiedler J, Frances AM, Le Merrer M, Richter M, Brenner RE.
    Spine (Phila Pa 1976); 2003 Nov 15; 28(22):E478-82. PubMed ID: 14624098
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  • 2. 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 15; 74(6):737-41. PubMed ID: 14763708
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  • 6. A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
    Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT.
    Clin Chim Acta; 2009 Dec 15; 410(1-2):39-42. PubMed ID: 19766614
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  • 7. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
    Savarirayan R, Thompson E, Gécz J.
    Eur J Hum Genet; 2003 Sep 15; 11(9):639-42. PubMed ID: 12939648
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  • 8. X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
    Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY.
    Ann Lab Med; 2012 May 15; 32(3):234-7. PubMed ID: 22563562
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  • 9. [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
    Gao C, Luo Q, Wang HL, Gao XQ, Fan QT, Wang H, Sheng GY, Zhou JH, Gao TZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 15; 20(1):15-8. PubMed ID: 12579492
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  • 10. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
    Li J, Chai X, Lu L, Zhu J, Du X, Zhao L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 15; 31(5):604-7. PubMed ID: 25297591
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  • 11. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
    Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y.
    BMC Med Genet; 2020 May 29; 21(1):117. PubMed ID: 32471379
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  • 12. A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
    Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gecz J.
    Am J Hum Genet; 2001 Jun 29; 68(6):1398-407. PubMed ID: 11326333
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  • 13. [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 29; 25(1):15-8. PubMed ID: 18247296
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  • 14. X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
    Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, Ofir R, Birk OS.
    Am J Med Genet A; 2004 Feb 15; 125A(1):45-8. PubMed ID: 14755465
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  • 15. [Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
    Zhu HY, Li J, Zhu RF, Wu X, Duan HL, Yang Y, Zhang Y, Hu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug 15; 25(4):421-3. PubMed ID: 18683141
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  • 16. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
    Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC.
    Am J Hum Genet; 2001 Jun 15; 68(6):1386-97. PubMed ID: 11349230
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  • 17. Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.
    Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H.
    Am J Med Genet; 2001 Apr 01; 99(4):328-30. PubMed ID: 11252002
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  • 18. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family.
    Xiao C, Zhang S, Wang J, Qiu W, Chi L, Li Y, Su Z.
    Mutat Res; 2003 Apr 09; 525(1-2):61-5. PubMed ID: 12650905
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  • 19. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
    Lin Y, Rao SQ, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Apr 09; 25(2):150-3. PubMed ID: 18393234
    [Abstract] [Full Text] [Related]

  • 20. [Effect of a novel splicing mutation (IVS2-2A-->C) of SEDL gene on RNA processing].
    Luo Q, Gao C, Wang HL, Zhou JH, Gao TZ.
    Yi Chuan; 2005 Jul 09; 27(4):544-8. PubMed ID: 16120574
    [Abstract] [Full Text] [Related]

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