BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 49(5):396-401. PubMed ID: 16497573
    [TBL] [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; 8():78. PubMed ID: 18072967
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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; 121A(1):69-74. PubMed ID: 12900906
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Joining the fingers: a HOXD13 Story.
    Brison N; Debeer P; Tylzanowski P
    Dev Dyn; 2014 Jan; 243(1):37-48. PubMed ID: 24038517
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 94(14):7458-63. PubMed ID: 9207113
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 5(7):945-52. PubMed ID: 8817328
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 7(6):1033-8. PubMed ID: 9580668
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 170(3):615-21. PubMed ID: 26581570
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
    Zhao X; Sun M; Zhao J; Leyva JA; Zhu H; Yang W; Zeng X; Ao Y; Liu Q; Liu G; Lo WH; Jabs EW; Amzel LM; Shan X; Zhang X
    Am J Hum Genet; 2007 Feb; 80(2):361-71. PubMed ID: 17236141
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Limb skeletal malformations - what the HOX is going on?
    Brison N; Tylzanowski P; Debeer P
    Eur J Med Genet; 2012 Jan; 55(1):1-7. PubMed ID: 21782042
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 532(2):297-301. PubMed ID: 24055421
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 9(5):e96192. PubMed ID: 24789103
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 57(1):237-41. PubMed ID: 23948678
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 249(2):93-100. PubMed ID: 31611522
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
    Zaib T; Ji W; Saleem K; Nie G; Li C; Cao L; Xu B; Dong K; Yu H; Hao X; Xue Y; Si S; Jia X; Wu J; Zhang X; Guan R; Ji G; Bai J; Chen F; Liu Y; Sun W; Fu S
    BMC Med Genet; 2019 Dec; 20(1):203. PubMed ID: 31870337
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.