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Journal Abstract Search

149 related items for PubMed ID: 19686284

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  • 3. [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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  • 4. 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 Feb; 49(5):396-401. PubMed ID: 16497573
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  • 5. [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; 30(10):973-7. PubMed ID: 14669516
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  • 6. 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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  • 7. 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 11; 22(3):277-80. PubMed ID: 15952114
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  • 8. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
    Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR.
    J Med Genet; 2002 Nov 11; 39(11):852-6. PubMed ID: 12414828
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  • 9. 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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  • 16. 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
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  • 17. 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 Jul 08; 54(2):108-11. PubMed ID: 20974300
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  • 18. Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
    Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B.
    J Med Genet; 2010 May 08; 47(5):351-5. PubMed ID: 20452998
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  • 19. 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
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  • 20. A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.
    Shi X, Ji C, Cao L, Wu Y, Shang Y, Wang W, Luo Y.
    Gene; 2013 Dec 15; 532(2):297-301. PubMed ID: 24055421
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