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Items: 1 to 20 of 90

1.

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE.

Hum Mutat. 2002 May;19(5):573-4.

2.

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ.

Am J Hum Genet. 2000 Jul;67(1):197-202. Epub 2000 Jun 5.

3.

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.

Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C.

Am J Med Genet A. 2016 Mar;170(3):717-24. doi: 10.1002/ajmg.a.37478. Epub 2015 Nov 21.

PMID:
26590955
4.

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N.

Am J Med Genet A. 2014 Sep;164A(9):2398-402. doi: 10.1002/ajmg.a.36648. Epub 2014 Jun 16.

PMID:
24934387
5.

A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.

Jorgensen EM, Ruman JI, Doherty L, Taylor HS.

Fertil Steril. 2010 Sep;94(4):1235-8. doi: 10.1016/j.fertnstert.2009.05.057. Epub 2009 Jul 9.

6.

Mutation of HOXA13 in hand-foot-genital syndrome.

Mortlock DP, Innis JW.

Nat Genet. 1997 Feb;15(2):179-80.

PMID:
9020844
7.

Limb malformations and the human HOX genes.

Goodman FR.

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

PMID:
12357469
8.

Human HOX gene mutations.

Goodman FR, Scambler PJ.

Clin Genet. 2001 Jan;59(1):1-11. Review.

PMID:
11206481
9.
10.

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW.

Am J Med Genet A. 2013 May;161A(5):1019-27. doi: 10.1002/ajmg.a.35843. Epub 2013 Mar 26.

PMID:
23532960
11.

HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina.

Ekici AB, Strissel PL, Oppelt PG, Renner SP, Brucker S, Beckmann MW, Strick R.

Gene. 2013 Apr 15;518(2):267-72. doi: 10.1016/j.gene.2013.01.030. Epub 2013 Jan 30.

PMID:
23376215
12.

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.

Parker L, Mangwani J, Wakeling E, Singh D.

Foot Ankle Surg. 2011 Jun;17(2):e28-30. doi: 10.1016/j.fas.2010.12.003. Epub 2011 Jan 19.

PMID:
21549968
13.

HOX gene links limb, genital defects.

Dickman S.

Science. 1997 Mar 14;275(5306):1568. No abstract available.

PMID:
9072822
14.

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B.

Hum Mol Genet. 2004 Nov 15;13(22):2841-51. Epub 2004 Sep 22.

PMID:
15385446
15.

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
16.

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.

17.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T.

Am J Hum Genet. 2000 May;66(5):1504-15. Epub 2000 Apr 4. Erratum in: Am J Hum Genet 2000 Sep;67(3):769.

18.

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W.

Clin Genet. 2012 Jul;82(1):48-55. doi: 10.1111/j.1399-0004.2011.01698.x. Epub 2011 May 27.

PMID:
21554266
19.

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

Frisén L, Lagerstedt K, Tapper-Persson M, Kockum I, Nordenskjöld A.

J Med Genet. 2003 Apr;40(4):e49. No abstract available.

20.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q.

Eur J Hum Genet. 2014 Sep;22(9):1105-10. doi: 10.1038/ejhg.2014.7. Epub 2014 Feb 5.

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