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Journal Abstract Search

119 related items for PubMed ID: 22161087

  • 1. [Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].
    Jin H, Lin PF, Wang QM, Mao F, Cai Y, Gong YQ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):601-5. PubMed ID: 22161087
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [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
    [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 Oct; 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 15; 56(10):701-6. PubMed ID: 21814222
    [Abstract] [Full Text] [Related]

  • 9. Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations.
    Tüzel E, Samli H, Kuru I, Türkmen S, Demir Y, Maralcan G, Güler C.
    Urology; 2007 Jul 15; 70(1):161-4. PubMed ID: 17656229
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. [Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].
    Li Y, Xin Q, Shan S, Li J, Liu Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug 15; 32(4):481-4. PubMed ID: 26252089
    [Abstract] [Full Text] [Related]

  • 12. [Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts].
    Wu WQ, Xie JS, Han CX, Xu ZY, Geng Q, Yuan H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec 15; 28(6):616-9. PubMed ID: 22161090
    [Abstract] [Full Text] [Related]

  • 13. Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
    Wang B, Li N, Geng J, Wang Z, Fu Q, Wang J, Xu Y.
    Congenit Anom (Kyoto); 2017 Jan 15; 57(1):4-7. PubMed ID: 27254532
    [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 15; 80(2):361-71. PubMed ID: 17236141
    [Abstract] [Full Text] [Related]

  • 15. Joining the fingers: a HOXD13 Story.
    Brison N, Debeer P, Tylzanowski P.
    Dev Dyn; 2014 Jan 15; 243(1):37-48. PubMed ID: 24038517
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
    Jia W, Zhou X, Guo N, Zhang D, Hou M, Luo Y, Peng X, Yang X, Zhang X.
    Am J Med Genet A; 2022 Jan 26; 188(1):31-36. PubMed ID: 34467619
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 63(4):992-1000. PubMed ID: 9758628
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.
    Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, Guan L, Xiao J, Song Z, Guo Y.
    Mol Med Rep; 2017 Jul 15; 16(1):473-477. PubMed ID: 28498426
    [Abstract] [Full Text] [Related]

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