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Journal Abstract Search

189 related items for PubMed ID: 9580668

  • 1. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
    Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, Davisson MT.
    Hum Mol Genet; 1998 Jun; 7(6):1033-8. PubMed ID: 9580668
    [Abstract] [Full Text] [Related]

  • 2. Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
    Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S.
    J Clin Invest; 2009 Jan; 119(1):146-56. PubMed ID: 19075394
    [Abstract] [Full Text] [Related]

  • 3. The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.
    Bruneau S, Johnson KR, Yamamoto M, Kuroiwa A, Duboule D.
    Dev Biol; 2001 Sep 15; 237(2):345-53. PubMed ID: 11543619
    [Abstract] [Full Text] [Related]

  • 4. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
    Muragaki Y, Mundlos S, Upton J, Olsen BR.
    Science; 1996 Apr 26; 272(5261):548-51. PubMed ID: 8614804
    [Abstract] [Full Text] [Related]

  • 5. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
    Zhao XL, Meng JP, Sun M, Ao Y, Wu AH, Lo HY, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb 26; 22(1):5-9. PubMed ID: 15696469
    [Abstract] [Full Text] [Related]

  • 6. The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
    Albrecht AN, Schwabe GC, Stricker S, Böddrich A, Wanker EE, Mundlos S.
    Mech Dev; 2002 Mar 26; 112(1-2):53-67. PubMed ID: 11850178
    [Abstract] [Full Text] [Related]

  • 7. Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.
    Cocquempot O, Brault V, Babinet C, Herault Y.
    Genetics; 2009 Sep 26; 183(1):23-30. PubMed ID: 19546318
    [Abstract] [Full Text] [Related]

  • 8. [Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
    Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L.
    Yi Chuan Xue Bao; 2003 Oct 26; 30(10):973-7. PubMed ID: 14669516
    [Abstract] [Full Text] [Related]

  • 9. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
    Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM.
    Am J Med Genet; 2002 Jun 15; 110(2):116-21. PubMed ID: 12116248
    [Abstract] [Full Text] [Related]

  • 10. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
    Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M.
    Hum Mol Genet; 1996 Jul 15; 5(7):945-52. PubMed ID: 8817328
    [Abstract] [Full Text] [Related]

  • 11. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
    Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M.
    Am J Med Genet A; 2016 Mar 15; 170(3):615-21. PubMed ID: 26581570
    [Abstract] [Full Text] [Related]

  • 12. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
    Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ.
    Proc Natl Acad Sci U S A; 1997 Jul 08; 94(14):7458-63. PubMed ID: 9207113
    [Abstract] [Full Text] [Related]

  • 13. Limb malformations and the human HOX genes.
    Goodman FR.
    Am J Med Genet; 2002 Oct 15; 112(3):256-65. PubMed ID: 12357469
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations of the HOXD13 gene in hand and foot malformations.
    Nakano K, Sakai N, Yamazaki Y, Watanabe H, Yamada N, Sezaki K, Susami T, Tokunaga K, Takato T, Uchinuma E.
    Int Surg; 2007 Oct 15; 92(5):287-95. PubMed ID: 18399101
    [Abstract] [Full Text] [Related]

  • 15. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.
    Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y.
    Eur J Med Genet; 2006 Oct 15; 49(5):396-401. PubMed ID: 16497573
    [Abstract] [Full Text] [Related]

  • 16. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
    Kan SH, Johnson D, Giele H, Wilkie AO.
    Am J Med Genet A; 2003 Aug 15; 121A(1):69-74. PubMed ID: 12900906
    [Abstract] [Full Text] [Related]

  • 17. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
    Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P.
    Am J Hum Genet; 1998 Oct 15; 63(4):992-1000. PubMed ID: 9758628
    [Abstract] [Full Text] [Related]

  • 18. Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly.
    Dai L, Heng ZC, Zhu J, Cai R, Mao M, Wang H, Lin MJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun 15; 22(3):277-80. PubMed ID: 15952114
    [Abstract] [Full Text] [Related]

  • 19. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
    Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M.
    Hum Genet; 2002 May 15; 110(5):488-94. PubMed ID: 12073020
    [Abstract] [Full Text] [Related]

  • 20. Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.
    Kuss P, Kraft K, Stumm J, Ibrahim D, Vallecillo-Garcia P, Mundlos S, Stricker S.
    Dev Biol; 2014 Jan 01; 385(1):83-93. PubMed ID: 24161848
    [Abstract] [Full Text] [Related]

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