These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

125 related items for PubMed ID: 25297591

  • 21. 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]

  • 22. 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 09; 64(3):235-42. PubMed ID: 12919139
    [Abstract] [Full Text] [Related]

  • 23. Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
    Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV.
    J Clin Endocrinol Metab; 2001 Jul 09; 86(7):3233-6. PubMed ID: 11443194
    [Abstract] [Full Text] [Related]

  • 24. 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 09; 68(6):1398-407. PubMed ID: 11326333
    [Abstract] [Full Text] [Related]

  • 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 09; 17(4):510-6. PubMed ID: 19002213
    [Abstract] [Full Text] [Related]

  • 26. 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 09; 68(6):1386-97. PubMed ID: 11349230
    [Abstract] [Full Text] [Related]

  • 27. 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 09; 74(6):737-41. PubMed ID: 14763708
    [Abstract] [Full Text] [Related]

  • 28. 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 09; 88(1):87-91. PubMed ID: 19417549
    [No Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. [Prenatal diagnosis of a case with X-linked spondyloepiphyseal dysplasia tarda].
    Cao F, Wang QW, Yu B, Huang RP, Hu YL, Zhang XQ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Oct 15; 30(5):598-600. PubMed ID: 24078579
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. 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]

  • 33. Spondyloepiphyseal dysplasia tarda: report of one case.
    Shu SG, Tsai CR, Chi CS.
    Acta Paediatr Taiwan; 2002 Apr 01; 43(2):106-8. PubMed ID: 12041616
    [Abstract] [Full Text] [Related]

  • 34. [Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family].
    Gao C, Wang H, Kong X, Shang Q, Duan J, Luo Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr 01; 31(2):144-7. PubMed ID: 24711020
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 39. Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL).
    Kong L, Wang D, Li S, Zhang C, Jiang X, Guan Q, Zhang Z, Jing F, Xu J.
    Int J Endocrinol; 2018 Jul 01; 2018():8263136. PubMed ID: 30647738
    [Abstract] [Full Text] [Related]

  • 40. 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 Jul 01; 54(1):54-6. PubMed ID: 12446987
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 7.