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Results: 1 to 20 of 161

Similar articles for PubMed (Select 8614804)

1.

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.

PMID:
8614804
2.

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.

3.

[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
4.

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.

5.

[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
6.

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
7.

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.

8.

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.

Warren ST.

Science. 1997 Jan 17;275(5298):408-9. No abstract available.

9.

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. Epub 2007 Jan 3.

10.

Limb malformations and the human HOX genes.

Goodman FR.

Am J Med Genet. 2002 Oct 15;112(3):256-65. Review.

PMID:
12357469
11.

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.

12.

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.

Debeer P, Schoenmakers EF, Thoelen R, Fryns JP, Van de Ven WJ.

Cytogenet Cell Genet. 1998;81(3-4):229-34.

PMID:
9730609
13.

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Akarsu AN, Akhan O, Sayli BS, Sayli U, Baskaya G, Sarfarazi M.

J Med Genet. 1995 Jun;32(6):435-41.

14.

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
15.

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
16.

Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.

Debeer P, Schoenmakers EF, Thoelen R, Holvoet M, Kuittinen T, Fabry G, Fryns JP, Goodman FR, Van de Ven WJ.

Eur J Hum Genet. 2000 Aug;8(8):561-70.

17.

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
18.

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.

Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S.

J Clin Invest. 2009 Jan;119(1):146-56. doi: 10.1172/JCI36851. Epub 2008 Dec 15.

19.

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 8;94(14):7458-63.

20.

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. doi: 10.1038/jhg.2011.84. Epub 2011 Aug 4.

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