PMC Links for Nucleotide (Select 1677538306) - PMC - NCBI

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Items: 5

Select item 63325351.

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang

BMC Med Genet. 2019; 20: 14. Published online 2019 Jan 14. doi: 10.1186/s12881-018-0725-3

PMCID:: PMC6332535

Abstract Article PDF–1.0M

Select item 57992062.

A novel small deletion in the NHS gene associated with Nance-Horan syndrome

Huajin Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Shijing Wu, Ruifang Sui

Sci Rep. 2018; 8: 2398. Published online 2018 Feb 5. doi: 10.1038/s41598-018-20787-2

PMCID:: PMC5799206

Abstract Article PDF–1.2M

Select item 28768873.

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

Simon P. Brooks, Margherita Coccia, Hao R. Tang, Naheed Kanuga, Laura M. Machesky, Maryse Bailly, Michael E. Cheetham, Alison J. Hardcastle

Hum Mol Genet. 2010 Jun 15; 19(12): 2421–2432. Published online 2010 Mar 23. doi: 10.1093/hmg/ddq125

PMCID:: PMC2876887

Abstract Article PDF–585K

Select item 16837704.

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

D Stambolian, R A Lewis, K Buetow, A Bond, R Nussbaum

Am J Hum Genet. 1990 Jul; 47(1): 13–19.

PMCID:: PMC1683770

Summary Page Browse PDF–948K

Select item 11804915.

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Kathryn P. Burdon, James D. McKay, Michèle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, Jamie E. Craig

Am J Hum Genet. 2003 Nov; 73(5): 1120–1130. Published online 2003 Oct 16. doi: 10.1086/379381

PMCID:: PMC1180491

Abstract Article PDF–903K

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