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Journal Abstract Search

193 related items for PubMed ID: 9758628

  • 1. 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; 63(4):992-1000. PubMed ID: 9758628
    [Abstract] [Full Text] [Related]

  • 2. [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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  • 3. A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
    Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM.
    J Hum Genet; 2011 Oct; 56(10):701-6. PubMed ID: 21814222
    [Abstract] [Full Text] [Related]

  • 4. [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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  • 5. 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
    [Abstract] [Full Text] [Related]

  • 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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  • 9. Joining the fingers: a HOXD13 Story.
    Brison N, Debeer P, Tylzanowski P.
    Dev Dyn; 2014 Jan 11; 243(1):37-48. PubMed ID: 24038517
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  • 10. 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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  • 11. 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 08; 5(7):945-52. PubMed ID: 8817328
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  • 12. 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 08; 7(6):1033-8. PubMed ID: 9580668
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  • 13. 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 08; 170(3):615-21. PubMed ID: 26581570
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  • 15. Limb skeletal malformations - what the HOX is going on?
    Brison N, Tylzanowski P, Debeer P.
    Eur J Med Genet; 2012 Jan 08; 55(1):1-7. PubMed ID: 21782042
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  • 16. 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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  • 17. Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
    Dai L, Liu D, Song M, Xu X, Xiong G, Yang K, Zhang K, Meng H, Guo H, Bai Y.
    PLoS One; 2014 Dec 15; 9(5):e96192. PubMed ID: 24789103
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  • 18. A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
    Zhou X, Zheng C, He B, Zhu Z, Li P, He X, Zhu S, Yang C, Lao Z, Zhu Q, Liu X.
    Bone; 2013 Nov 15; 57(1):237-41. PubMed ID: 23948678
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  • 19. A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly.
    Guo X, Shi T, Lin M, Zhang Y.
    Tohoku J Exp Med; 2019 Oct 15; 249(2):93-100. PubMed ID: 31611522
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