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Items: 1 to 20 of 116

1.

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 Mar-Apr;54(2):108-11. doi: 10.1016/j.ejmg.2010.10.007. Epub 2010 Oct 23.

PMID:
20974300
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. Chinese.

PMID:
15696469
3.

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

Wang B, Xu B, Cheng Z, Zhou X, Wang J, Yang G, Cheng L, Yang J, Ma X.

Clin Chim Acta. 2012 Jul 11;413(13-14):1049-52. doi: 10.1016/j.cca.2012.02.015. Epub 2012 Feb 22.

PMID:
22374128
4.

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.

PMID:
15952114
5.

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.

PMID:
8817328
6.

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.

PMID:
12116248
7.

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 Sep-Oct;49(5):396-401. Epub 2006 Feb 9.

PMID:
16497573
8.

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. doi: 10.1016/j.gene.2012.02.046. Epub 2012 Mar 3.

PMID:
22406499
9.

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.

PMID:
9580668
10.

[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;32(4):481-4. doi: 10.3760/cma.j.issn.1003-9406.2015.04.006. Chinese.

PMID:
26252089
11.

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.

12.

[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. Chinese.

PMID:
14669516
13.

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;39(11):852-6. No abstract available.

14.

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. doi: 10.1111/j.1399-0004.2009.01213.x. Epub 2009 Aug 17. No abstract available.

PMID:
19686284
15.

[Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly].

Dai L, Li NN, Deng Y, Mao M, Wang H, Zhu J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):379-82. doi: 10.3760/cma.j.issn.1003-9406.2011.04.004. Chinese.

PMID:
21811974
16.

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 May 1;9(5):e96192. doi: 10.1371/journal.pone.0096192. eCollection 2014. Erratum in: PLoS One. 2014;9(7):e104309.

17.

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. doi: 10.1016/j.bone.2013.07.039. Epub 2013 Aug 12.

18.

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;57(1):4-7. doi: 10.1111/cga.12173.

PMID:
27254532
19.

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 15;121A(1):69-74.

PMID:
12900906
20.

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