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129 related items for PubMed ID: 11252002

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.
    Mumm S, Zhang X, Gottesman GS, McAlister WH, Whyte MP.
    J Bone Miner Res; 2001 Dec 01; 16(12):2245-50. PubMed ID: 11760838
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.
    Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP.
    Gene; 2001 Aug 08; 273(2):285-93. PubMed ID: 11595175
    [Abstract] [Full Text] [Related]

  • 5. 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 08; 85(9):3343-7. PubMed ID: 10999831
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Spondyloepiphyseal dysplasia tarda: report of one case.
    Shu SG, Tsai CR, Chi CS.
    Acta Paediatr Taiwan; 2002 May 29; 43(2):106-8. PubMed ID: 12041616
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. [Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].
    Wang HL, Gao C, Luo Q, Sheng GY, Zhou JH, Gao TZ, Peng S, Lu JP.
    Zhonghua Er Ke Za Zhi; 2003 Apr 15; 41(4):256-9. PubMed ID: 14754526
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 22(4):400-4. PubMed ID: 10431248
    [Abstract] [Full Text] [Related]

  • 12. 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 Aug 15; 54(1):54-6. PubMed ID: 12446987
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. [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
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 68(6):1398-407. PubMed ID: 11326333
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
    Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, Salerno M, Gécz J.
    Clin Genet; 2003 Sep 15; 64(3):235-42. PubMed ID: 12919139
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

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