These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

358 related articles for article (PubMed ID: 18949062)

  • 1. 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; 2008; 14():1856-64. PubMed ID: 18949062
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 2006 Jun; 15(12):1972-83. PubMed ID: 16675532
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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; 2006 Sep; 14(9):986-90. PubMed ID: 16736028
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 2006 Jan; 15(2):319-27. PubMed ID: 16357105
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. NHS-A isoform of the NHS gene is a novel interactor of ZO-1.
    Sharma S; Koh KS; Collin C; Dave A; McMellon A; Sugiyama Y; McAvoy JW; Voss AK; Gécz J; Craig JE
    Exp Cell Res; 2009 Aug; 315(14):2358-72. PubMed ID: 19447104
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant.
    Steele EC; Wang JH; Lo WK; Saperstein DA; Li X; Church RL
    Mol Vis; 2000 Jun; 6():85-94. PubMed ID: 10851259
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
    Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M
    Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
    Rinne T; Clements SE; Lamme E; Duijf PH; Bolat E; Meijer R; Scheffer H; Rosser E; Tan TY; McGrath JA; Schalkwijk J; Brunner HG; Zhou H; van Bokhoven H
    Hum Mol Genet; 2008 Jul; 17(13):1968-77. PubMed ID: 18364388
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.
    Stambolian D; Favor J; Silvers W; Avner P; Chapman V; Zhou E
    Genomics; 1994 Jul; 22(2):377-80. PubMed ID: 7806224
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
    Khan AO; Aldahmesh MA; Mohamed JY; Alkuraya FS
    Ophthalmic Genet; 2012 Jun; 33(2):89-95. PubMed ID: 22229851
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
    Kondo Y; Saitsu H; Miyamoto T; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ryoo NK; Kim JH; Yu YS; Matsumoto N
    J Hum Genet; 2012 Mar; 57(3):197-201. PubMed ID: 22301464
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.
    Reches A; Yaron Y; Burdon K; Crystal-Shalit O; Kidron D; Malcov M; Tepper R
    Prenat Diagn; 2007 Jul; 27(7):662-4. PubMed ID: 17451191
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.
    Hershey CL; Fisher DE
    Gene; 2005 Feb; 347(1):73-82. PubMed ID: 15715979
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
    Krumbholz M; Koehler K; Huebner A
    Biochem Cell Biol; 2006 Apr; 84(2):243-9. PubMed ID: 16609705
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.