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Journal Abstract Search

169 related items for PubMed ID: 10431248

  • 1. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
    Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gécz J.
    Nat Genet; 1999 Aug; 22(4):400-4. PubMed ID: 10431248
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  • 3. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
    Savarirayan R, Thompson E, Gécz J.
    Eur J Hum Genet; 2003 Sep; 11(9):639-42. PubMed ID: 12939648
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  • 5. 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; 410(1-2):39-42. PubMed ID: 19766614
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  • 6. [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; 20(1):15-8. PubMed ID: 12579492
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  • 7. 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; 68(6):1398-407. PubMed ID: 11326333
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  • 8. 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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  • 9. [Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].
    Lu JF, Ma HW, Jiang J, Niu GH, Liu XM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Aug 15; 21(4):309-11. PubMed ID: 15300622
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  • 10. [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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  • 11. A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
    Xia XY, Yu J, Li WW, Li N, Wu QY, Zhou X, Cui YX, Li XJ.
    Genet Mol Res; 2014 Apr 29; 13(2):3362-70. PubMed ID: 24841781
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  • 12. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
    Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE.
    Hum Mutat; 2004 Jul 29; 24(1):103. PubMed ID: 15221797
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  • 13. A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
    Mumm S, Christie PT, Finnegan P, Jones J, Dixon PH, Pannett AA, Harding B, Gottesman GS, Thakker RV, Whyte MP.
    J Clin Endocrinol Metab; 2000 Sep 29; 85(9):3343-7. PubMed ID: 10999831
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  • 14. 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 29; 68(6):1386-97. PubMed ID: 11349230
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  • 18. 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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  • 20. Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).
    Heuertz S, Smahi A, Wilkie AO, Le Merrer M, Maroteaux P, Hors-Cayla MC.
    Hum Genet; 1995 Oct 01; 96(4):407-10. PubMed ID: 7557961
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