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Journal Abstract Search

257 related items for PubMed ID: 18617546

  • 21. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.
    Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C.
    Clin Genet; 2016 Jun; 89(6):690-9. PubMed ID: 26822852
    [Abstract] [Full Text] [Related]

  • 22. Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
    Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D.
    Ophthalmic Genet; 2019 Dec; 40(6):558-563. PubMed ID: 31826698
    [Abstract] [Full Text] [Related]

  • 23. Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
    Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M.
    Ophthalmol Retina; 2024 Sep; 8(9):932-941. PubMed ID: 38522615
    [Abstract] [Full Text] [Related]

  • 24. Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.
    Scholl HP, Langrová H, Pusch CM, Wissinger B, Zrenner E, Apfelstedt-Sylla E.
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2728-36. PubMed ID: 11581222
    [Abstract] [Full Text] [Related]

  • 25. [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness].
    Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2002 Dec; 106(12):737-55; discussion 756. PubMed ID: 12610835
    [Abstract] [Full Text] [Related]

  • 26. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
    Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR.
    Acta Ophthalmol; 2012 May; 90(3):e192-7. PubMed ID: 22008250
    [Abstract] [Full Text] [Related]

  • 27. NYX mutations in four families with high myopia with or without CSNB1.
    Zhou L, Li T, Song X, Li Y, Li H, Dan H.
    Mol Vis; 2015 May; 21():213-23. PubMed ID: 25802485
    [Abstract] [Full Text] [Related]

  • 28. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
    Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT.
    Br J Ophthalmol; 2003 Nov; 87(11):1413-20. PubMed ID: 14609846
    [Abstract] [Full Text] [Related]

  • 29. CSNB1 in Chinese families associated with novel mutations in NYX.
    Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q.
    J Hum Genet; 2006 Nov; 51(7):634-40. PubMed ID: 16670814
    [Abstract] [Full Text] [Related]

  • 30. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
    Zeitz C, Robson AG, Audo I.
    Prog Retin Eye Res; 2015 Mar; 45():58-110. PubMed ID: 25307992
    [Abstract] [Full Text] [Related]

  • 31. Congenital Stationary Night Blindness: Clinical and Genetic Features.
    Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK.
    Int J Mol Sci; 2022 Nov 29; 23(23):. PubMed ID: 36499293
    [Abstract] [Full Text] [Related]

  • 32. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
    Marmor MF, Zeitz C.
    Doc Ophthalmol; 2018 Aug 29; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

  • 33. Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
    Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N.
    Sci Rep; 2015 Aug 03; 5():12679. PubMed ID: 26234941
    [Abstract] [Full Text] [Related]

  • 34. Mutations in the CACNA1F and NYX genes in British CSNBX families.
    Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ.
    Hum Mutat; 2003 Feb 03; 21(2):169. PubMed ID: 12552565
    [Abstract] [Full Text] [Related]

  • 35. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.
    Invest Ophthalmol Vis Sci; 2007 Jun 03; 48(6):2498-502. PubMed ID: 17525176
    [Abstract] [Full Text] [Related]

  • 36. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
    Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.
    Am J Hum Genet; 2016 May 05; 98(5):1011-1019. PubMed ID: 27063057
    [Abstract] [Full Text] [Related]

  • 37. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
    Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ.
    Invest Ophthalmol Vis Sci; 2005 Jun 05; 46(6):1891-8. PubMed ID: 15914600
    [Abstract] [Full Text] [Related]

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