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Items: 1 to 20 of 204

1.

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.

2.

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
3.

[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
4.

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

PMID:
16497573
6.

[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
7.

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.

8.

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
9.

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
10.

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.

11.

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.

12.

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.

13.
14.

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.

15.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.

Am J Med Genet A. 2007 Dec 15;143A(24):3161-8.

PMID:
17935235
16.

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.

17.

Limb malformations and the human HOX genes.

Goodman FR.

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

PMID:
12357469
18.

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.

Am J Med Genet A. 2003 Dec 15;123A(3):267-78.

PMID:
14608649
19.

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.

20.

[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. doi: 10.3760/cma.j.issn.1003-9406.2011.06.001. Chinese.

PMID:
22161087
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