| 1 | NHS
|
| Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
|
| Ling C, Sui R, Yao F, Wu Z, Zhang X, Zhang S.
|
| BMC Med Genet 20(1):14. doi: 10.1186/s12881-018-0725-3.
2019
|
| 2 | NHS
|
| Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
|
| Gómez-Laguna L, Martínez-Herrera A, Reyes-de la Rosa ADP, García-Delgado C, Nieto-Martínez K, Fernández-Ramírez F, Valderrama-Atayupanqui TY, Morales-Jiménez AB, Villa-Morales J, Kofman S, Cervantes A, Morán-Barroso VF.
|
| Ophthalmic Genet 39(1):56-62. doi: 10.1080/13816810.2017.1363245. Epub 2017 Sep 18. Review.
2018
|
| 3 | NHS
|
| Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?
|
| Kammoun M, Brady P, De Catte L, Deprest J, Devriendt K, Vermeesch JR.
|
| Eur J Hum Genet 26(3):359-366. doi: 10.1038/s41431-017-0032-z. Epub 2018 Jan 22.
2018
|
| 4 | NHS
|
| Nance-Horan syndrome-The oral perspective on a rare disease.
|
| Gjørup H, Haubek D, Jacobsen P, Ostergaard JR.
|
| Am J Med Genet A 173(1):88-98. doi: 10.1002/ajmg.a.37963. Epub 2016 Sep 12. Review.
2017
|
| 5 | NHS
|
| Syndromes with supernumerary teeth.
|
| Lubinsky M, Kantaputra PN.
|
| Am J Med Genet A 170(10):2611-6. doi: 10.1002/ajmg.a.37763. Epub 2016 Jun 2. Review.
2016
|
| 6 | NHS
|
| 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 15(8):727-34. doi: 10.1631/jzus.B1300321. Erratum in: J Zhejiang Univ Sci B. 2014 Nov;15(11):1011.
2014
|
| 7 | NHS
|
| The status of intercellular junctions in established lens epithelial cell lines.
|
| Dave A, Craig JE, Sharma S.
|
| Mol Vis 18:2937-46. Epub 2012 Dec 12.
2012
|
| 8 | NHS
|
| Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.
|
| Liao HM, Niu DM, Chen YJ, Fang JS, Chen SJ, Chen CH.
|
| J Hum Genet 56(1):8-11. Epub 2010 Sep 30.
2011
|
| 9 | NHS
|
| The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
|
| Chograni M, Rejeb I, Jemaa LB, Châabouni M, Bouhamed HC.
|
| Eur J Hum Genet 19(8):851-6. doi: 10.1038/ejhg.2011.52. Epub 2011 May 11.
2011
|
| 10 | NHS
|
| 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.
|
| Hum Mol Genet 19(12):2421-32. Epub 2010 Mar 23.PMID: 20332100 2010
|
| 11 | CCXNS3, NHS
|
| 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 18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4.
2009
|
| 12 | CCXNS, NHS
|
| 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 18(14):2643-55. Epub 2009 May 4.
2009
|
| 13 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
|
| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
|
| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
|
| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
|
| 14 | NHS
|
| Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
|
| Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE.
|
| Mol Vis 14:1856-64. Epub 2008 Oct 20.
2008
|
| 15 | NHS
|
| 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 13:470-4.
2007
|
| 16 | NHS
|
| 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.
|
| Hum Mol Genet 15(2):319-27. Epub 2005 Dec 15. 2006
|
| 17 | NHS
|
| 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.
|
| Eur J Hum Genet 14(9):986-90. Epub 2006 May 31. 2006
|
| 18 | NHS
|
| Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
|
| Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, Craig JE.
|
| Hum Mol Genet 15(12):1972-83. Epub 2006 May 4.
2006
|
| 19 | NHS
|
| 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 46(1):17-23. 2005
|
| 20 | NHS, NHSL1
|
| Identification of the gene for Nance-Horan syndrome (NHS).
|
| Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ.
|
| J Med Genet 41(10):768-71. 2004
|
| 21 | NHS
|
| 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, Gecz J, Craig JE.
|
| Am J Hum Genet 73(6):1120-30. Epub 2003 Oct 16. 2003
|
| 22 | NHS
|
| Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
|
| Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, Bitoun P, Trump D, Moraine C, Franco B.
|
| Eur J Hum Genet 10(9):516-20. 2002
|
| 23 | NHS, RAI2
|
| Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
|
| Walpole SM, et al.
|
| Hum Genet 104(5):410-1. 1999
|
| 24 | NHS
|
| Nance-Horan syndrome : linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.
|
| Toutain A, et al.
|
| Hum Genet 99 : 256-261. 1997
|
| 25 | NHS
|
| Nance-Horan syndrome : linkage analysis in a family from the Netherlands.
|
| Bergen AAB, et al.
|
| Genomics 21 : 238-240. 1994
|
| 26 | NHS
|
| Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.
|
| Stambolian D, et al.
|
| Am J Hum Genet 47 : 13-19. 1990
|
| 27 | NHS
|
| Mapping X-linked ophtalmic diseases. IV.Provisional assignment of the locus for X-linked congenital cataracts and microcomea (the Nance-Horan syndrome) to Xp22.2-p22.3.
|
| Lewis RA, et al.
|
| Ophthalmology 97 : 110-120. 1990
|
| 28 | NHS
|
| Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.
|
| Zhu D, et al.
|
| Hum Genet 86 : 54-58. 1990
|
| 29 | NHS
|
| Linkage studies in the Nance-Horan syndrome using eight polymorphic DNA probes from the short arm of X chromosome.
|
| Stambolian D, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1085. 1989
|