PubMed (cited) for id: 300457

Year	Number of Results
1979	1
1990	1
2002	1
2003	1
2004	2
2005	2
2006	2
2007	1
2009	1
2010	1
2014	1
2015	1
2024	0

1

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.

Li A, Li B, Wu L, Yang L, Chen N, Ma Z. Li A, et al. Curr Eye Res. 2015 Apr;40(4):434-8. doi: 10.3109/02713683.2014.959606. Epub 2014 Sep 30. Curr Eye Res. 2015. PMID: 25266737

2

The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

Brooks SP, Coccia M, Tang HR, Kanuga N, Machesky LM, Bailly M, Cheetham ME, Hardcastle AJ. Brooks SP, et al. Hum Mol Genet. 2010 Jun 15;19(12):2421-32. doi: 10.1093/hmg/ddq125. Epub 2010 Mar 23. Hum Mol Genet. 2010. PMID: 20332100 Free PMC article.

3

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. Coccia M, et al. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4. Hum Mol Genet. 2009. PMID: 19414485 Free PMC article.

4

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP. Van Esch H, et al. Am J Med Genet A. 2007 Feb 15;143(4):364-9. doi: 10.1002/ajmg.a.31572. Am J Med Genet A. 2007. PMID: 17256798

5

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJ, Mannens MM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AA. Florijn RJ, et al. Eur J Hum Genet. 2006 Sep;14(9):986-90. doi: 10.1038/sj.ejhg.5201671. Epub 2006 May 31. Eur J Hum Genet. 2006. PMID: 16736028

6

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.

Huang KM, Wu J, Duncan MK, Moy C, Dutra A, Favor J, Da T, Stambolian D. Huang KM, et al. Hum Mol Genet. 2006 Jan 15;15(2):319-27. doi: 10.1093/hmg/ddi449. Epub 2005 Dec 15. Hum Mol Genet. 2006. PMID: 16357105

7

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G. Ramprasad VL, et al. Invest Ophthalmol Vis Sci. 2005 Jan;46(1):17-23. doi: 10.1167/iovs.04-0477. Invest Ophthalmol Vis Sci. 2005. PMID: 15623749

8

Identification of the gene for Nance-Horan syndrome (NHS).

Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ. Brooks SP, et al. J Med Genet. 2004 Oct;41(10):768-71. doi: 10.1136/jmg.2004.022517. J Med Genet. 2004. PMID: 15466011 Free PMC article.

9

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A. Brooks S, et al. Ophthalmic Genet. 2004 Jun;25(2):121-31. doi: 10.1080/13816810490514360. Ophthalmic Genet. 2004. PMID: 15370543

10

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.

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