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Journal Abstract Search

185 related items for PubMed ID: 16120574

  • 21. [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; 25(2):150-3. PubMed ID: 18393234
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
    Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC.
    Genomics; 2000 Oct 15; 69(2):242-51. PubMed ID: 11031107
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. 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 15; 88(1):87-91. PubMed ID: 19417549
    [No Abstract] [Full Text] [Related]

  • 26. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
    Sakai N, Santamarina-Fojo S, Yamashita S, Matsuzawa Y, Brewer HB.
    J Lipid Res; 1996 Oct 15; 37(10):2065-73. PubMed ID: 8906584
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. 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 01; 24(1):103. PubMed ID: 15221797
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. 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 09; 54(1):54-6. PubMed ID: 12446987
    [Abstract] [Full Text] [Related]

  • 31. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
    Hennig EE, Conney AH, Wei SJ.
    Cancer Res; 1995 Apr 01; 55(7):1550-8. PubMed ID: 7882364
    [Abstract] [Full Text] [Related]

  • 32. A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25.
    Gau JP, Hsu HC, Chau WK, Ho CH.
    Ann Hematol; 2003 Mar 01; 82(3):175-7. PubMed ID: 12634951
    [Abstract] [Full Text] [Related]

  • 33. 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 01; 74(6):737-41. PubMed ID: 14763708
    [Abstract] [Full Text] [Related]

  • 34. Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
    Bulman MP, Harries LW, Hansen T, Shepherd M, Kelly WF, Hattersley AT, Ellard S.
    Diabetologia; 2002 Oct 01; 45(10):1463-7. PubMed ID: 12378390
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the Kniest form of spondyloepiphyseal dysplasia.
    Yang W, Cole WG.
    Hum Mutat; 1998 May 29; Suppl 1():S1-2. PubMed ID: 9452022
    [No Abstract] [Full Text] [Related]

  • 37. 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]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39. Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
    Villegas-Ruiz V, Campos-Garcia FJ, Contreras-Capetillo S, Moreno-Graciano CM, Maldonado-Solis FA, Maldonado-Solis MA, Zenteno JC.
    Clin Biochem; 2015 Dec 15; 48(18):1273-6. PubMed ID: 26169240
    [Abstract] [Full Text] [Related]

  • 40. A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.
    Fofanova OV, Evgrafov OV, Polyakov AV, Poltaraus AB, Peterkova VA, Dedov II.
    J Clin Endocrinol Metab; 2003 Feb 15; 88(2):820-6. PubMed ID: 12574219
    [Abstract] [Full Text] [Related]

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