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Journal Abstract Search

156 related items for PubMed ID: 12116248

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  • 2. [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; 22(1):5-9. PubMed ID: 15696469
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  • 3. Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.
    Wajid M, Ishii Y, Kurban M, Dua-Awereh MB, Shimomura Y, Christiano AM.
    Clin Genet; 2009 Sep; 76(3):300-2. PubMed ID: 19686284
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  • 5. 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; 22(3):277-80. PubMed ID: 15952114
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  • 6. 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 Jun; 49(5):396-401. PubMed ID: 16497573
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  • 7. Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
    Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH.
    BMC Med Genet; 2007 Dec 11; 8():78. PubMed ID: 18072967
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  • 11. 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 11; 110(5):488-94. PubMed ID: 12073020
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  • 13. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.
    Warren ST.
    Science; 1997 Jan 17; 275(5298):408-9. PubMed ID: 9005557
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  • 14. Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.
    Xin Q, Li L, Li J, Qiu R, Guo C, Gong Y, Liu Q.
    Gene; 2012 May 10; 499(1):48-51. PubMed ID: 22406499
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  • 18. Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.
    Gong L, Wang B, Wang J, Yu H, Ma X, Yang J.
    Eur J Med Genet; 2011 May 10; 54(2):108-11. PubMed ID: 20974300
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