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7. Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. Hong N; Chen YH; Xie C; Xu BS; Huang H; Li X; Yang YQ; Huang YP; Deng JL; Qi M; Gu YS J Zhejiang Univ Sci B; 2014 Aug; 15(8):727-34. PubMed ID: 25091991 [TBL] [Abstract][Full Text] [Related]
8. 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 Am J Hum Genet; 2003 Nov; 73(5):1120-30. PubMed ID: 14564667 [TBL] [Abstract][Full Text] [Related]
9. 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 Hum Mol Genet; 2009 Jul; 18(14):2643-55. PubMed ID: 19414485 [TBL] [Abstract][Full Text] [Related]
10. [Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations]. Li L; Zheng GY; Song JX; Yue JF; Tan N Zhonghua Yan Ke Za Zhi; 2024 Sep; 60(9):757-765. PubMed ID: 39267554 [No Abstract] [Full Text] [Related]
11. 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 Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):17-23. PubMed ID: 15623749 [TBL] [Abstract][Full Text] [Related]
12. A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. Tian Q; Li Y; Kousar R; Guo H; Peng F; Zheng Y; Yang X; Long Z; Tian R; Xia K; Lin H; Pan Q BMC Med Genet; 2017 Jan; 18(1):2. PubMed ID: 28061824 [TBL] [Abstract][Full Text] [Related]
13. 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 Ophthalmic Genet; 2004 Jun; 25(2):121-31. PubMed ID: 15370543 [TBL] [Abstract][Full Text] [Related]
14. A novel small deletion in the NHS gene associated with Nance-Horan syndrome. Li H; Yang L; Sun Z; Yuan Z; Wu S; Sui R Sci Rep; 2018 Feb; 8(1):2398. PubMed ID: 29402928 [TBL] [Abstract][Full Text] [Related]
15. Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'. Okamoto N J Hum Genet; 2011 Jan; 56(1):4. PubMed ID: 21107339 [No Abstract] [Full Text] [Related]
16. A Turkish family with Nance-Horan Syndrome due to a novel mutation. Tug E; Dilek NF; Javadiyan S; Burdon KP; Percin FE Gene; 2013 Aug; 525(1):141-5. PubMed ID: 23566852 [TBL] [Abstract][Full Text] [Related]
17. Identification of three novel NHS mutations in families with Nance-Horan syndrome. Huang KM; Wu J; Brooks SP; Hardcastle AJ; Lewis RA; Stambolian D Mol Vis; 2007 Mar; 13():470-4. PubMed ID: 17417607 [TBL] [Abstract][Full Text] [Related]
18. Identification of the gene for Nance-Horan syndrome (NHS). Brooks SP; Ebenezer ND; Poopalasundaram S; Lehmann OJ; Moore AT; Hardcastle AJ J Med Genet; 2004 Oct; 41(10):768-71. PubMed ID: 15466011 [TBL] [Abstract][Full Text] [Related]
19. 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 Curr Eye Res; 2015 Apr; 40(4):434-8. PubMed ID: 25266737 [TBL] [Abstract][Full Text] [Related]
20. Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. Walpole SM; Ronce N; Grayson C; Dessay B; Yates JR; Trump D; Toutain A Hum Genet; 1999 May; 104(5):410-1. PubMed ID: 10394933 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]